Find and classify phenotypic correlations for variations in whole genomes

Chris Ball9

Date of birth: 1981-12-01
Female, European

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Highlighting by allele frequency



OMIM (73)

Coordinates
Gene, amino acid change
 Genotype
Trait-associated allele
Associated trait
chr1:25589952
RHCE, P226A		 C/G
C		 RH E/e POLYMORPHISM
chr1:53485315
LRP8, R952Q		 T/T
T		 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1
chr1:65809029
LEPR, K109R		 A/G
G		 LEPTIN RECEPTOR POLYMORPHISM
chr1:65831101
LEPR, Q223R		 A/G
G		 LEPTIN RECEPTOR POLYMORPHISM
chr1:67478546
IL23R, R381Q		 G/A
A		 INFLAMMATORY BOWEL DISEASE 17, PROTECTION AGAINST
chr1:67478546
IL23R, R381Q		 G/A
A		 PSORIASIS, PROTECTION AGAINST, INCLUDED
chr1:167831970
SELP, V640L		 C/A
A		 ATOPY, SUSCEPTIBILITY TO
chr2:49043425
FSHR, N680S		 C/T
C		 OVARIAN HYPERSTIMULATION SYNDROME, MODIFIER OF SEVERITY OF, INCLUDED
chr2:49043425
FSHR, N680S		 C/T
C		 OVARIAN RESPONSE TO FSH STIMULATION
chr2:49044545
FSHR, T307A		 C/T
C		 OVARIAN RESPONSE TO FSH STIMULATION
chr2:183411581
FRZB, R200W		 G/A
A		 OSTEOARTHRITIS SUSCEPTIBILITY 1
chr2:201857834
CASP8, D302H		 G/C
C		 BREAST CANCER, PROTECTION AGAINST
chr2:230758959
SP110, L425S		 A/G
G		 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
chr2:233848107
ATG16L1, T300A		 G/G
G		 INFLAMMATORY BOWEL DISEASE 10, SUSCEPTIBILITY TO
chr4:2876505
ADD1, G460W		 G/T
T		 HYPERTENSION, SALT-SENSITIVE ESSENTIAL, SUSCEPTIBILITY TO
chr4:102970099
BANK1, R61H		 A/A
A		 SYSTEMIC LUPUS ERYTHMATOSUS, ASSOCIATION WITH
chr5:7923973
MTRR, I22M		 A/G
G		 DOWN SYNDROME, SUSCEPTIBILITY TO, INCLUDED
chr5:7923973
MTRR, I22M		 A/G
G		 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO
chr5:131704219
SLC22A4, L503F		 C/T
T		 SLC22A4 POLYMORPHISM
chr5:148186666
ADRB2, Q27E		 G/C
G		 ASTHMA, CHILDHOOD, SUSCEPTIBILITY TO, INCLUDED
chr5:148186666
ADRB2, Q27E		 G/C
G		 METABOLIC SYNDROME, SUSCEPTIBILITY TO, INCLUDED
chr5:148186666
ADRB2, Q27E		 G/C
G		 OBESITY, SUSCEPTIBILITY TO
chr5:148187078
ADRB2, T164I		 C/T
T		 BETA-2-ADRENORECEPTOR AGONIST, REDUCED RESPONSE TO
chr6:16398740
GMPR, F256I		 A/A
A		 GMP REDUCTASE POLYMORPHISM
chr6:38758606
GLO1, A111E		 T/G
T		 AUTISM, SUSCEPTIBILITY TO
chr6:46787262
PLA2G7, I198T		 A/G
G		 ASTHMA AND ATOPY, SUSCEPTIBILITY TO
chr6:160033862
SOD2, A16V		 A/G
A		 MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6, INCLUDED
chr6:160033862
SOD2, A16V		 A/G
A		 SUPEROXIDE DISMUTASE 2 POLYMORPHISM
chr7:34784638
NPSR1, N107I		 T/T
T		 ASTHMA SUSCEPTIBILITY 2
chr7:94872711
PON2, C311S		 G/C
G		 PARAOXONASE 2 POLYMORPHISM
chr7:94878952
PON2, A148G		 G/C
C		 PARAOXONASE 2 POLYMORPHISM
chr7:141319073
TAS2R38, I296V		 T/C
C		 PHENYLTHIOCARBAMIDE TASTING
chr7:141319174
TAS2R38, V262A		 G/A
G		 PHENYLTHIOCARBAMIDE TASTING
chr7:141319814
TAS2R38, A49P		 C/G
G		 PHENYLTHIOCARBAMIDE TASTING
chr8:18302134
NAT2, I114T		 T/C
C		 ACETYLATION, SLOW
chr8:18302596
NAT2, K268R		 G/A
G		 ACETYLATION, SLOW
chr8:55701948
RP1, N985Y		 T/T
T		 HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO
chr8:118253964
SLC30A8, R325W		 C/T
T		 DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO
chr8:133969434
TG, S734A		 G/G
G		 AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3
chr9:34639442
GALT, N314D		 A/G
G		 DUARTE VARIANT
chr10:64085190
ZNF365, A62T		 A/G
A		 URIC ACID NEPHROLITHIASIS, SUSCEPTIBILITY TO
chr10:70311866
STOX1, Y153H		 C/C
C		 PREECLAMPSIA/ECLAMPSIA 4
chr10:115795046
ADRB1, R389G		 G/C
G		 CONGESTIVE HEART FAILURE AND BETA-BLOCKER RESPONSE, MODIFIER OF
chr11:17366148
KCNJ11, E23K		 T/C
T		 DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO
chr11:59619680
MS4A2, E237G		 A/G
G		 ATOPIC ASTHMA, SUSCEPTIBILITY TO
chr11:68611939
TPCN2, G734E		 G/A
A		 SKIN/HAIR/EYE PIGMENTATION 10, BLOND/BROWN HAIR
chr11:88551344
TYR, S192Y		 A/A
A		 SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING, INCLUDED
chr11:88551344
TYR, S192Y		 A/A
A		 SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
chr12:9123535
A2M, V1000I		 T/C
T		 ALPHA-2-MACROGLOBULIN POLYMORPHISM
chr12:9123535
A2M, V1000I		 T/C
T		 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, INCLUDED
chr12:111833253
OAS1, S162G		 G/A
G		 DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO
chr13:107661592
LIG4, T9I		 G/A
A		 MULTIPLE MYELOMA, RESISTANCE TO
chr14:20010446
PNP, S51G		 G/A
G		 NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM
chr14:63978598
MTHFD1, R653Q		 G/A
A		 ABRUPTIO PLACENTAE, SUSCEPTIBILITY TO, INCLUDED
chr14:63978598
MTHFD1, R653Q		 G/A
A		 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO
chr14:74584242
MLH3, E624Q		 C/G
G		 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
chr15:63281265
CILP, I395T		 A/G
G		 LUMBAR DISC DISEASE, SUSCEPTIBILITY TO
chr16:3647748
DNASE1, Q244R		 G/A
G		 SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
chr16:46815699
ABCC11, G180R		 C/T
T		 EAR WAX, WET/DRY
chr17:7520197
TP53, P72R		 G/C
C		 CODON 72 POLYMORPHISM
chr17:19753133
AKAP10, I646V		 T/C
C		 CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
chr17:25600202
BLMH, I443V		 C/C
C		 BLEOMYCIN HYDROLASE POLYMORPHISM
chr17:53710396
MPO, A332V		 G/A
A		 MYELOPEROXIDASE DEFICIENCY
chr17:59804699
PECAM1, L125V		 G/C
C		 PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM
chr18:9107867
NDUFV2, A29V		 T/C
T		 PARKINSON DISEASE, SUSCEPTIBILITY TO
chr19:50014584
BCAM, T539A		 A/G
G		 AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)
chr20:4628251
PRNP, M129V		 A/G
G		 ALZHEIMER DISEASE, EARLY-ONSET, SUSCEPTIBILITY TO, INCLUDED
chr20:4628251
PRNP, M129V		 A/G
G		 APHASIA, PRIMARY PROGRESSIVE, SUSCEPTIBILITY TO, INCLUDED
chr20:4628251
PRNP, M129V		 A/G
G		 PRION DISEASE, SUSCEPTIBILITY TO
chr20:54394948
AURKA, F31I		 A/T
T		 COLON CANCER, SUSCEPTIBILITY TO
chr21:33562658
IL10RB, E47K		 A/G
A		 HEPATITIS B VIRUS, SUSCEPTIBILITY TO
chr22:18331271
COMT, V158M		 G/A
A		 CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM
chr22:29341610
TCN2, P259R		 G/C
G		 TCN2 POLYMORPHISM

SNPedia (255)

Coordinates
Function
 Genotype
Associated trait
chr1:2543484
(Not computed)		 T/T 1.12x risk of Rheumatoid arthritis
chr1:11826663
(Not computed)		 C/T lower blood pressure
chr1:11828655
(Not computed)		 A/A 1.12x risk on diuretic; if hypertensive, better outcome when treated with calcium channel blocker than with diuretic
chr1:12185379
(Not computed)		 A/A slightly higher fat mass
chr1:17594950
(Not computed)		 A/G 1.28x increased basal cell carcinoma risk
chr1:26393727
(Not computed)		 A/G 0.46cm taller on average
chr1:28083990
(Not computed)		 A/G slightly reduced breast cancer odds?
chr1:53485315
(Not computed)		 T/T 1.3x increased risk for heart disease
chr1:59475385
(Not computed)		 C/T 1.2x increased risk for ALS
chr1:65848540
(Not computed)		 G/G less likely to gain weight if taking risperidone
chr1:67454257
(Not computed)		 G/T possibly reduced risk for Crohn's disease
chr1:67460937
(Not computed)		 C/T 0.83x lower risk for spondylitis
chr1:67466790
(Not computed)		 A/A 2.4x risk for Graves' disease
chr1:67475114
(Not computed)		 G/T 0.68x lower risk for spondylitis
chr1:67478546
(Not computed)		 A/G 0.26x lower risk for certain autoimmune diseases
chr1:67491717
(Not computed)		 A/G 0.8x lower risk for spondylitis
chr1:67497708
(Not computed)		 C/C 1x risk for certain autoimmune diseases; 2.3x risk for Graves disease
chr1:80344646
(Not computed)		 A/A 2x risk (rheumatoid arthritis)
chr1:103126726
(Not computed)		 A/G 1.4x risk for LDH
chr1:157441307
(Not computed)		 T/T Duffy-positive
chr1:159060184
(Not computed)		 G/G rarer; slight decrease in SLE risk
chr1:159746369
(Not computed)		 A/A complex; generally greater risk for cancer progression
chr1:160352309
(Not computed)		 T/T Shorter QT interval
chr1:184909681
(Not computed)		 G/G 0.68x decreased risk for bladder cancer
chr1:194969433
(Not computed)		 C/C 2x increased risk for macular degeneration
chr1:205013257
(Not computed)		 A/G 0.5x decreased risk for endometriosis
chr1:205013520
(Not computed)		 C/T 1.6x increased prostate cancer risk
chr1:212897240
(Not computed)		 A/G poorer survival rate if breast cancer patient
chr1:227064458
(Not computed)		 G/T 1.28x increased basal cell carcinoma risk
chr2:21085700
(Not computed)		 A/G elevated lipids
chr2:27594741
(Not computed)		 C/T metabolic consequences
chr2:37449029
(Not computed)		 A/A average risk?
chr2:66634957
(Not computed)		 G/G >1.7x risk for restless legs
chr2:70828398
(Not computed)		 G/T 1.3x risk for hypertension
chr2:98538676
(Not computed)		 A/A 1.16x increased risk for asthma
chr2:113306861
(Not computed)		 A/G complex; see details
chr2:136325116
(Not computed)		 A/A can digest milk
chr2:160922421
(Not computed)		 C/C 1.9x risk (type-2 diabetes)
chr2:187229505
(Not computed)		 A/C 1.9x risk (rheumatoid arthritis)
chr2:191672878
(Not computed)		 G/T 1.3x risk for RA; 1.5x for SLE
chr2:198339959
(Not computed)		 A/G ~1.18x increased risk of aneurysm
chr2:204447164
(Not computed)		 G/G increased risk for auto-immune diseases
chr2:233848107
(Not computed)		 G/G 2x-3x increased risk for Crohn's disease in Caucasians
chr3:15191433
(Not computed)		 C/T 1.45x increased osteoarthritis risk (osteoarthritis)
chr3:28679467
(Not computed)		 G/G Homozygous major
chr3:32305690
(Not computed)		 C/T 1.2x risk (bipolar disorder)
chr3:45937756
(Not computed)		 T/T somewhat higher risk for prostate cancer
chr3:45980482
(Not computed)		 G/G somewhat higher risk for prostate cancer
chr3:55288440
(Not computed)		 C/C 1.8x risk of type-2 diabetes
chr3:56784668
(Not computed)		 A/G increased osteoporosis risk
chr3:109630418
(Not computed)		 C/T increased risk of coronary heart disease; better response to statins
chr3:143764302
(Not computed)		 A/G poorer response to pancreatic cancer combined treatment
chr3:166973974
(Not computed)		 T/T possible increased Alzheimer's risk
chr3:167031223
(Not computed)		 T/T typical reaction to CI exposure, anesthetic use
chr3:172214994
(Not computed)		 A/G significantly higher sugar consumption?
chr3:186994381
(Not computed)		 G/T 1.2x increased risk for type-2 diabetes
chr3:187011774
(Not computed)		 A/C 1.2x increased risk for type-2 diabetes
chr3:187813156
(Not computed)		 T/T 1x normal risk
chr3:188042168
(Not computed)		 C/G 0.73x decreased risk for colorectal cancer
chr3:191128627
(Not computed)		 C/T 1.2x increased bladder cancer risk
chr4:2876505
(Not computed)		 G/T 1.8x increased risk for high blood pressure
chr4:9603313
(Not computed)		 T/T ~4x higher risk for hyperuracemia
chr4:23424760
(Not computed)		 C/T higher blood pressure if <50
chr4:38442115
(Not computed)		 C/T 1.1x increased risk for Non-hodgkin's lymphoma
chr4:56837794
(Not computed)		 C/T somewhat higher risk for prostate cancer
chr4:100448040
(Not computed)		 G/G alcoholism risk for African-Americans
chr4:111940210
(Not computed)		 G/T 1.4x increased risk of atrial fibrillation and ischemic stroke
chr4:146970416
(Not computed)		 C/C somewhat higher risk for prostate cancer
chr4:154844859
(Not computed)		 T/T somwhat increased risk for type-1 diabetes and allergic asthma
chr4:187241068
(Not computed)		 C/T 0.71x decreased risk for dry age related macular degeneration
chr5:1447522
(Not computed)		 C/C 2x risk of severe alcohol withdrawal
chr5:33987450
(Not computed)		 G/G generally European
chr5:35910332
(Not computed)		 C/C 1.5x increased risk for multiple sclerosis
chr5:59538277
(Not computed)		 A/G 1.5x increased stroke risk
chr5:131704219
(Not computed)		 C/T 2.1x increased risk of Crohn's disease
chr5:148186666
(Not computed)		 C/G complex; see details for increased risks
chr5:148187078
(Not computed)		 C/T increased risk of coronary artery disease
chr5:150219780
(Not computed)		 A/G 1.3x increased risk for Crohn's disease
chr5:158675528
(Not computed)		 T/T 1.4x increased risk of psoriasis and psoriatic arthritis
chr5:167778369
(Not computed)		 C/T increased memory performance
chr6:6533880
(Not computed)		 A/C increased risk
chr6:20836710
(Not computed)		 C/T 1.6x risk (Crohn's disease)
chr6:22233943
(Not computed)		 C/T possible increased risk for neuroblastoma
chr6:22239908
(Not computed)		 A/C possible increased risk for neuroblastoma
chr6:22247983
(Not computed)		 A/G possible increased risk for neuroblastoma
chr6:24315179
(Not computed)		 A/G increased risk (dyslexia)
chr6:24381770
(Not computed)		 G/G 2-5x risk (dyslexia)
chr6:24740621
(Not computed)		 C/C higher risk for dyslexia
chr6:24756434
(Not computed)		 T/T higher risk for dyslexia
chr6:26201120
(Not computed)		 G/G Normal/Common
chr6:31248026
(Not computed)		 A/G ~5x increased risk of psoriasis
chr6:31382359
(Not computed)		 C/T 60% reduction in HIV viral load
chr6:31650942
(Not computed)		 G/G higher acute otitis risk
chr6:31651010
(Not computed)		 G/G complex; generally normal risk (rs1800629)
chr6:31651080
(Not computed)		 G/G complex; generally normal risk
chr6:32471794
(Not computed)		 T/T 2x risk for sarcoidosis
chr6:32521029
(Not computed)		 A/G 3x higher risk of multiple sclerosis
chr6:32771829
(Not computed)		 C/T 2.3x risk of rheumatoid arthritis
chr6:33744638
(Not computed)		 C/C 2.9.x risk (type-1 diabetes)
chr6:35656214
(Not computed)		 A/A 0.63x decreased risk for bipolar disorder
chr6:36759949
(Not computed)		 C/C increased risk for lung cancer
chr6:38548948
(Not computed)		 A/G 1.9x risk for restless legs
chr6:43844367
(Not computed)		 A/C 1.36x increased risk for thyroid cancer in men
chr6:52158992
(Not computed)		 A/G 1.4x increased gastric cancer risk
chr6:55250296
(Not computed)		 G/G 2-6x increased risk for cluster headaches
chr6:88910354
(Not computed)		 C/T more resistant to treatment for depression
chr6:134530653
(Not computed)		 G/T slightly decreased risk for type-2 diabetes
chr6:149763383
(Not computed)		 A/A MET/MET increased [[diabetes]] susceptibility
chr6:152312365
(Not computed)		 C/C 0.42x reduced lymphoma risk
chr6:161921426
(Not computed)		 T/T highest lysine values
chr7:22733170
(Not computed)		 C/G complex; see details
chr7:86987858
(Not computed)		 C/C 7x more likely to respond to certain antidepressants
chr7:86998497
(Not computed)		 A/A 7x less likely to respond to certain antidepressants
chr7:87003686
(Not computed)		 C/C 7x more likely to respond to certain antidepressants
chr7:87007292
(Not computed)		 C/C 7x more likely to respond to certain antidepressants
chr7:87037500
(Not computed)		 C/C 7x less likely to respond to certain antidepressants
chr7:94775382
(Not computed)		 T/T 0.65x lower risk of ovarian cancer; normal PON catalytic efficiency
chr7:103192051
(Not computed)		 G/G 1.58x increased schizophrenia risk for women
chr7:141319073
(Not computed)		 C/T can taste bitter
chr7:141319174
(Not computed)		 A/G can taste bitter
chr7:141319814
(Not computed)		 C/G can taste bitter
chr7:147157839
(Not computed)		 T/T risk of speech development delay and/or impairment
chr7:147205323
(Not computed)		 G/G higher risk of speech development delay and/or impairment
chr7:147216752
(Not computed)		 C/C higher risk for speech development delay and/or impairment
chr7:153836827
(Not computed)		 C/C >1.3x risk for ALS
chr8:6722809
(Not computed)		 C/T 2.4x increased risk for one form of Crohn's disease
chr8:19863719
(Not computed)		 A/A lower HDL cholesterol
chr8:37942955
(Not computed)		 A/A 2x higher risk in certain women for cardiac events
chr8:118253964
(Not computed)		 C/T increased risk for type-2 diabetes
chr8:128081119
(Not computed)		 T/T 1.7x increased risk for prostate cancer
chr8:128482487
(Not computed)		 G/G 1.58x risk for prostate cancer; also other cancers
chr8:128787250
(Not computed)		 G/T 1.2x increased bladder cancer risk
chr8:130015336
(Not computed)		 A/A 6x increased risk for cleft lip
chr9:21993367
(Not computed)		 A/G 0.71x reduced myocardial infarction risk
chr9:35156763
(Not computed)		 G/G 1.63x increased nephropathy risk among type-1 diabetics
chr9:99595930
(Not computed)		 A/G 1.7x increased thyroid cancer risk
chr9:130024576
(Not computed)		 T/T associated with heavier smoking in Caucasians
chr10:3852542
(Not computed)		 C/T 1.1x risk (Crohn's disease)
chr10:42926693
(Not computed)		 A/G 10% smaller kidneys as newborns
chr10:54003581
(Not computed)		 C/T 1.24x increased risk for LOAD
chr10:61451953
(Not computed)		 A/A 0.79x decreased risk for LOAD
chr10:94452862
(Not computed)		 C/T 1.3x risk of [[type-2 diabetes]]
chr10:94471897
(Not computed)		 G/G 3.2x risk for T2D
chr10:96692037
(Not computed)		 C/C normal; no change in warfarin metabolism
chr10:96731043
(Not computed)		 A/A normal; no effect on warfarin metabolism
chr10:101594197
(Not computed)		 C/T 1.6x risk for ICP
chr10:103994185
(Not computed)		 G/G increased risk of parkinson's disease
chr10:115795046
(Not computed)		 C/G depends on [[rs1801252]]
chr10:131455160
(Not computed)		 A/G 0.67x decreased risk for lung cancer
chr10:135190819
(Not computed)		 G/T carrier of one CYP2E1*7_-71G>T allele
chr10:135201127
(Not computed)		 C/G carrier of one CYP2E1*1B allele
chr10:135201352
(Not computed)		 C/T carrier of one CYP2E1_10463T>C(F421F) allele
chr11:626784
(Not computed)		 C/T increased susceptibility to novelty seeking
chr11:17366148
(Not computed)		 C/T 1.3x increased risk for type-2 diabetes
chr11:41871942
(Not computed)		 C/C >1.5x risk for T2D
chr11:58148077
(Not computed)		 G/G greater relative benefit of iloperidone to schizophrenics
chr11:59619680
(Not computed)		 A/G 3x risk
chr11:61309256
(Not computed)		 G/G common; higher LDL-C and total cholesterol
chr11:61354548
(Not computed)		 A/A 4+ IQ points for breastfeeding
chr11:65161876
(Not computed)		 A/G 2.15x more likely positive lymph node
chr11:66084671
(Not computed)		 T/T possibly increased endurance
chr11:67109265
(Not computed)		 G/G 3.5x asthma risk in certain populations
chr11:88551344
(Not computed)		 A/A associated with the absence of freckles
chr11:107730871
(Not computed)		 A/G 1.6x increased risk of lung cancer
chr11:110676919
(Not computed)		 A/C 1.17x increased risk of colorectal cancer
chr11:112776038
(Not computed)		 G/G A2/A2 [[bupropion]] effective
chr11:112788669
(Not computed)		 A/G 1.4x higher schizophrenia risk
chr11:120168573
(Not computed)		 C/C ~10% more likely to respond to citalopram
chr11:130255852
(Not computed)		 C/C increased risk of coronary heart disease; better response to statins
chr12:6825136
(Not computed)		 C/T (some risk; see details)
chr12:9123535
(Not computed)		 C/T possibly increased risk for Alzheimers
chr12:9646845
(Not computed)		 A/G 1.10x risk (multiple sclerosis)
chr12:46586093
(Not computed)		 C/C if less milk in teenage females, less bone?
chr12:70618190
(Not computed)		 G/G higher scores on anxiety-related personality traits; greater placebo response
chr12:70659129
(Not computed)		 G/G risk of suicide behavior
chr12:107168319
(Not computed)		 T/T higher risk for hypertension
chr12:110368991
(Not computed)		 C/T increased risk for celiac disease
chr12:110971201
(Not computed)		 A/G 1.3x risk (type-1 diabetes)
chr12:123886803
(Not computed)		 C/C more likely to gain weight if taking olanzapine
chr13:46307035
(Not computed)		 G/G higher risk for RA
chr13:46367941
(Not computed)		 A/G higher risk for RA
chr13:47895694
(Not computed)		 G/G 1.25x risk of developing ovarian cancer
chr13:50722329
(Not computed)		 A/G somewhat higher risk for prostate cancer
chr14:35718997
(Not computed)		 C/T 1.3x increased thyroid cancer risk
chr14:63831670
(Not computed)		 A/C 1.65x increased risk only in men for myocardial infarction
chr15:25933648
(Not computed)		 G/G blue/gray eyes possible
chr15:26012308
(Not computed)		 C/C blue eye color if part of blue eye color haplotype
chr15:26017833
(Not computed)		 A/A blue/gray eyes more likely
chr15:26039213
(Not computed)		 G/G blue eye color, 99% of the time
chr15:26039328
(Not computed)		 C/C blue eye color if part of blue eye color haplotype
chr15:26162483
(Not computed)		 T/T blue eye color if part of blue eye color haplotype
chr15:30782048
(Not computed)		 C/T 1.23x risk for colorectal cancer
chr15:46213776
(Not computed)		 A/A probably light-skinned, European ancestry
chr15:56461987
(Not computed)		 G/G highest phosphatidylethanolamine values
chr15:56534122
(Not computed)		 C/T 1.3x risk for ALS
chr15:63281265
(Not computed)		 A/G higher risk of LDD
chr15:65823906
(Not computed)		 A/G 0.71x risk for restless legs
chr15:65824632
(Not computed)		 A/G 0.70x risk for restless legs
chr15:65859329
(Not computed)		 C/T 0.71x risk for restless legs
chr15:72009255
(Not computed)		 C/T 4.4x increased risk of exfoliation glaucoma
chr15:72828394
(Not computed)		 G/T carrier of one CYP1A2*1K_-739T>G allele
chr15:72828970
(Not computed)		 A/C carrier of one CYP1A2*1F allele; smaller breasts among females drinking 3+ coffees/day?
chr15:77942037
(Not computed)		 C/T 1.2x increased risk for chronic kidney disease
chr16:23541527
(Not computed)		 A/G 2x risk
chr16:31012010
(Not computed)		 C/C warfarin sensitivity (~2.5 mg/day)
chr16:46815699
(Not computed)		 C/T wet earwax
chr16:79822098
(Not computed)		 G/T higher beta-carotene levels
chr16:81769899
(Not computed)		 G/G 2.2x risk (heart disease)
chr17:1620026
(Not computed)		 T/T 3.9x increased risk of wet ARMD
chr17:7477252
(Not computed)		 G/G best inverse correlation between tea-drinking, soy-consuming premenopausal women and risk of endometrial cancer
chr17:17655826
(Not computed)		 A/G 1.19x increased risk for T2D
chr17:25549137
(Not computed)		 A/A among alcoholics, likely to be heavier drinkers
chr17:25600202
(Not computed)		 C/C if testicular cancer patient, 5x poorer response to bleomycin chemotherapy
chr17:29603901
(Not computed)		 A/G increased risk of exercise induced ischemia
chr17:33172153
(Not computed)		 A/A 1.38x increased risk for prostate cancer
chr17:33180426
(Not computed)		 G/G 1.16x increased risk for prostate cancer
chr17:41248300
(Not computed)		 C/C better response to inhaled corticosteroid in patients with COPD
chr17:42715729
(Not computed)		 C/T MI risk, aspirin resistance
chr17:58920456
(Not computed)		 A/G slower responder
chr18:22684527
(Not computed)		 A/G 0.10 decreased risk for brain edema after a stroke
chr18:44707461
(Not computed)		 C/T 0.86x decreased risk for colorectal cancer
chr18:44707927
(Not computed)		 C/T 1.11x increased risk for colorectal cancer
chr18:44713030
(Not computed)		 C/T 1.10x increased risk for colorectal cancer
chr18:56002743
(Not computed)		 A/G adults likely to be 0.22 BMI units higher
chr18:56035730
(Not computed)		 A/G adult waist 0.9cm larger on average
chr18:65682622
(Not computed)		 C/T somewhat increased risk for multiple autoimmune diseases
chr19:7718733
(Not computed)		 A/G some resistance to tuberculosis
chr19:10256683
(Not computed)		 A/G 0.6x decreased risk for diabetic nephropathy in females with type-1 diabetes; increased malaria risk
chr19:15851431
(Not computed)		 C/C lower warfarin dosing
chr19:46552136
(Not computed)		 G/G higher risk for COPD
chr19:48747566
(Not computed)		 C/T 2x higher risk for skin cancer
chr19:53898443
(Not computed)		 A/A ABH blood group "Secretor" status if Japanese
chr20:3597679
(Not computed)		 G/G if a smoker, somewhat more likely to develop COPD
chr20:3599765
(Not computed)		 C/C if a smoker, somewhat more likely to develop COPD
chr20:4628251
(Not computed)		 A/G better long-term memory?
chr20:10168496
(Not computed)		 G/G 4+ IQ points
chr20:10179174
(Not computed)		 C/T somewhat higher IQ
chr20:10182257
(Not computed)		 A/G 3+ IQ points
chr20:32202273
(Not computed)		 C/C 2-4x higher risk of sun sensitivity if part of risk haplotype
chr20:33228215
(Not computed)		 A/G EPCR H3 haplotype; reduced or increased risk of VTE?
chr20:44073632
(Not computed)		 A/G higher risk for MI and lung cancer, and, COPD in smokers
chr20:54394948
(Not computed)		 A/T higher cancer risk
chr21:42427525
(Not computed)		 C/T 1.6x increased risk for high myopia
chr22:18330235
(Not computed)		 C/T higher risk for endometrial cancer
chr22:18331271
(Not computed)		 A/G multiple associations, see details
chr22:21899063
(Not computed)		 G/G 1.3x increased risk for depression
chr22:21957369
(Not computed)		 G/G 1.4x increased risk for bipolar disorder
chr22:34106672
(Not computed)		 T/T may be part of gs124
chr22:38782065
(Not computed)		 C/T 1.1x increased risk for prostate cancer
chr22:40858326
(Not computed)		 C/G carrier of one CYP2D6*2A allele
chrX:12834747
(Not computed)		 A/G possible 1.2 - 1.8x increased tuberculosis susceptibility in females
chrX:65741711
(Not computed)		 T/T males slightly more likely to go bald
chrX:91280393
(Not computed)		 A/G 1.26x increased risk for Alzheimer's disease in females (as compared to (G;G) females)
chrX:113724776
(Not computed)		 C/C possible weight gain if taking olanzapine
chrX:113724838
(Not computed)		 G/G less weight gain if taking olanzapine

Other hypotheses (251)

Coordinates
Gene, amino acid change
 Genotype
Associated trait
Score
chr4:100487213
ADH1C, *78G		 C/C {Parkinson disease, susceptibility to}, 168600 (3) 10
chr6:31431181
HLA-B, R263*		 A/A {Abacavir hypersensitivity, susceptibility to} (3) 10
chr6:31431181
HLA-B, R263*		 A/A {Drug-induced liver injury due to flucloxacillin} (3) 10
chr6:31431181
HLA-B, R263*		 A/A {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) 10
chr6:31431181
HLA-B, R263*		 A/A {Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) 10
chr6:31431181
HLA-B, R263*		 A/A {Synovitis, chronic, susceptibility to} (3) 10
chr6:32904662
TAP2, *687L		 A/G Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3) 10
chr6:32904662
TAP2, *687S		 A/G Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3) 10
chr6:32904662
TAP2, *687L		 A/G Wegener-like granulomatosis (3) 10
chr6:32904662
TAP2, *687S		 A/G Wegener-like granulomatosis (3) 10
chr9:133375256
POMT1, Q251*		 C/T Muscular dystrophy, congenital, plus mental retardation, 236670 (3) 10
chr9:133375256
POMT1, Q251*		 C/T Muscular dystrophy, limb-girdle, type 2K, 609308 (3) 10
chr9:133375256
POMT1, Q251*		 C/T Walker-Warburg syndrome, 236670 (3) 10
chr19:53898486
FUT2, W154*		 A/G [Bombay phenotype] (3) 10
chr19:53898486
FUT2, W154*		 A/G {Norwalk virus infection, resistance to} (3) 10
chr19:53898486
FUT2, W154*		 A/G {Vitamin B12 plasma level QTL1}, 612542 (3) 10
chr1:11013503
MASP2, D371Y		 A/A MASP2 deficiency (3) 5
chr1:98121473
DPYD, R29C		 A/A 5-fluorouracil toxicity, 274270 (3) 5
chr1:98121473
DPYD, R29C		 A/A Dihydropyrimidine dehydrogenase deficiency, 274270 (3) 5
chr1:156878860
SPTA1, C1568R		 A/G Elliptocytosis-2, 130600 (3) 5
chr1:156878860
SPTA1, C1568R		 A/G Pyropoikilocytosis, 266140 (3) 5
chr1:156878860
SPTA1, C1568R		 A/G Spherocytosis, type 3, 270970 (3) 5
chr2:73529177
ALMS1, V671G		 G/G Alstrom syndrome, 203800 (3) 5
chr2:179139243
TTN, R17556C		 A/G Cardiomyopathy, dilated, 1G, 604145 (3) 5
chr2:179139243
TTN, R17556C		 A/G Cardiomyopathy, familial hypertrophic, 9 (3) 5
chr2:179139243
TTN, R17556C		 A/G Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 5
chr2:179139243
TTN, R17556C		 A/G Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 5
chr2:179139243
TTN, R17556C		 A/G Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 5
chr2:179139243
TTN, R17556C		 A/G Tibial muscular dystrophy, tardive, 600334 (3) 5
chr3:187878130
HRG, R448C		 C/T Thrombophilia due to HRG deficiency, 613116 (3) 5
chr3:187878130
HRG, R448C		 C/T Thrombophilia due to elevated HRG, 613116 (1) 5
chr4:2876505
ADD1, G460W		 G/T {Hypertension, essential, salt-sensitive}, 145500 (3) 5
chr5:7942304
MTRR, R415C		 C/T Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) 5
chr5:7942304
MTRR, R415C		 C/T {Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3) 5
chr5:112204655
APC, V1822D		 A/A Adenoma, periampullary (3) 5
chr5:112204655
APC, V1822D		 A/A Adenomatous polyposis coli, 175100 (3) 5
chr5:112204655
APC, V1822D		 A/A Brain tumor-polyposis syndrome 2 (3) 5
chr5:112204655
APC, V1822D		 A/A Colorectal cancer, somatic, 114500 (3) 5
chr5:112204655
APC, V1822D		 A/A Desmoid disease, hereditary, 135290 (3) 5
chr5:112204655
APC, V1822D		 A/A Gardner syndrome (3) 5
chr5:112204655
APC, V1822D		 A/A Gastric cancer, somatic, 137215 (3) 5
chr5:112204655
APC, V1822D		 A/A Hepatoblastoma (3) 5
chr6:31432680
HLA-B, V36G		 C/C {Abacavir hypersensitivity, susceptibility to} (3) 5
chr6:31432680
HLA-B, V36G		 C/C {Drug-induced liver injury due to flucloxacillin} (3) 5
chr6:31432680
HLA-B, V36G		 C/C {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) 5
chr6:31432680
HLA-B, V36G		 C/C {Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) 5
chr6:31432680
HLA-B, V36G		 C/C {Synovitis, chronic, susceptibility to} (3) 5
chr6:31633891
NFKBIL1, R186C		 C/T {Rheumatoid arthritis, susceptibility to}, 180300 (3) 5
chr6:32926751
TAP1, I393N		 T/T Bare lymphocyte syndrome, type I, 604571 (3) 5
chr6:52022915
PKHD1, R760C		 A/A Polycystic kidney and hepatic disease, 263200 (3) 5
chr7:34784638
NPSR1, N107I		 T/T {Asthma, susceptibility to, 2}, 608584 (3) 5
chr7:37873829
TXNDC3, C208R		 C/T Ciliary dyskinesia, primary, 6, 610852 (3) 5
chr7:113305670
PPP1R3A, D905Y		 A/C Insulin resistance, severe, digenic, 604367 (3) 5
chr8:87748419
CNGB3, C234W		 C/C Achromatopsia-3, 262300 (3) 5
chr8:87748419
CNGB3, C234W		 C/C Macular degeneration, juvenile, 248200 (3) 5
chr10:99494620
ZFYVE27, G106V		 T/T Spastic paraplegia 33, 610244 (3) 5
chr10:121419623
BAG3, C151R		 C/T Myopathy, myofibrillar, BAG3-related, 612954 (3) 5
chr12:12762366
CDKN1B, V109G		 G/T Multiple endocrine neoplasia, type IV, 610755 (3) 5
chr1:57195072
C8B, G117R		 T/T C8 deficiency, type II (3) 4
chr1:67457975
IL23R, L310P		 C/C {Crohn disease, ileal, protection against}, 612261 (3) 4
chr1:67457975
IL23R, L310P		 C/C {Psoriasis, protection against}, 177900 (3) 4
chr1:94234305
ABCA4, S2255I		 A/C Cone-rod dystrophy 3, 604116 (3) 4
chr1:94234305
ABCA4, S2255I		 A/C Fundus flavimaculatus, 248200 (3) 4
chr1:94234305
ABCA4, S2255I		 A/C Macular degeneration, age-related, 2, 153800 (3) 4
chr1:94234305
ABCA4, S2255I		 A/C Retinal dystrophy, early-onset severe, 248200 (3) 4
chr1:94234305
ABCA4, S2255I		 A/C Retinitis pigmentosa-19, 601718 (3) 4
chr1:94234305
ABCA4, S2255I		 A/C Stargardt disease-1, 248200 (3) 4
chr1:103152506
COL11A1, P1207L		 A/G Marshall syndrome, 154780 (3) 4
chr1:103152506
COL11A1, P1207L		 A/G Stickler syndrome, type II, 604841 (3) 4
chr1:103152506
COL11A1, P1207L		 A/G {Lumbar disc herniation, susceptibility to}, 603932 (3) 4
chr1:114179091
PTPN22, W620R		 G/G {Diabetes, type 1, susceptibility to}, 222100 (3) 4
chr1:114179091
PTPN22, W620R		 G/G {Rheumatoid arthritis, susceptibility to}, 180300 (3) 4
chr1:114179091
PTPN22, W620R		 G/G {Systemic lupus erythematosus susceptibility to}, 152700 (3) 4
chr1:184317040
HMCN1, E2893G		 A/G {Macular degeneration, age-related, 1}, 603075 (3) 4
chr1:184540617
PRG4, R139W		 C/T Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3) 4
chr1:201419424
CHI3L1, R145G		 C/T {Asthma-related traits, susceptibility to, 7}, 611960 (3) 4
chr1:201419424
CHI3L1, R145G		 C/T {Schizophrenia, susceptibility to}, 181500 (3) 4
chr2:43925247
ABCG8, Y54C		 A/G Gallbladder disease 4, 611465 (3) 4
chr2:43925247
ABCG8, Y54C		 A/G Sitosterolemia, 210250 (3) 4
chr2:166807404
SCN9A, W1150R		 G/G Erythermalgia, primary, 133020 (3) 4
chr2:166807404
SCN9A, W1150R		 G/G Febrile convulsions, familial, 3B, 604403 (3) 4
chr2:166807404
SCN9A, W1150R		 G/G Insensitivity to pain, channelopathy-associated, 243000 (3) 4
chr2:166807404
SCN9A, W1150R		 G/G Paroxysmal extreme pain disorder, 167400 (3) 4
chr2:179121356
TTN, P22016L		 A/G Cardiomyopathy, dilated, 1G, 604145 (3) 4
chr2:179121356
TTN, P22016L		 A/G Cardiomyopathy, familial hypertrophic, 9 (3) 4
chr2:179121356
TTN, P22016L		 A/G Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 4
chr2:179121356
TTN, P22016L		 A/G Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 4
chr2:179121356
TTN, P22016L		 A/G Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 4
chr2:179121356
TTN, P22016L		 A/G Tibial muscular dystrophy, tardive, 600334 (3) 4
chr2:183411581
FRZB, R200W		 A/G {Osteoarthritis susceptibility 1}, 165720 (3) 4
chr2:227819679
COL4A3, L141P		 C/T Alport syndrome, autosomal recessive, 203780 (3) 4
chr2:227819679
COL4A3, L141P		 C/T Hematuria, benign familial, 141200 (3) 4
chr2:227821419
COL4A3, E162G		 A/G Alport syndrome, autosomal recessive, 203780 (3) 4
chr2:227821419
COL4A3, E162G		 A/G Hematuria, benign familial, 141200 (3) 4
chr2:230758959
SP110, L425S		 A/G Hepatic venoocclusive disease with immunodeficiency, 235550 (3) 4
chr2:230758959
SP110, L425S		 A/G {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) 4
chr2:230780953
SP110, G299R		 C/T Hepatic venoocclusive disease with immunodeficiency, 235550 (3) 4
chr2:230780953
SP110, G299R		 C/T {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) 4
chr2:230785969
SP110, W112R		 A/G Hepatic venoocclusive disease with immunodeficiency, 235550 (3) 4
chr2:230785969
SP110, W112R		 A/G {Mycobacterium tuberculosis, susceptibility to}, 607948 (3) 4
chr3:14174889
XPC, R463W		 A/G Xeroderma pigmentosum, group C, 278720 (3) 4
chr3:33113553
GLB1, P10L		 A/G GM1-gangliosidosis, type I, 230500 (3) 4
chr3:33113553
GLB1, P10L		 A/G GM1-gangliosidosis, type II, 230600 (3) 4
chr3:33113553
GLB1, P10L		 A/G GM1-gangliosidosis, type III, 230650 (3) 4
chr3:33113553
GLB1, P10L		 A/G Morquio syndrome B, 253010 (3) 4
chr3:49369838
GPX1, P200L		 A/G Hemolytic anemia due to glutathione peroxidase deficiency (1) 4
chr4:9519021
SLC2A9, P321L		 A/A Hypouricemia, renal, 2, 612076 (3) 4
chr4:9519021
SLC2A9, P321L		 A/A {Uric acid concentration, serum, QTL 2}, 612076 (3) 4
chr5:34034640
AMACR, L201S		 A/G Alpha-methylacyl-CoA racemase deficiency (3) 4
chr5:34034640
AMACR, L201S		 A/G Bile acid synthesis defect, congenital, 4, 214950 (3) 4
chr5:39400311
C9, R5W		 A/G C9 deficiency (3) 4
chr5:39400311
C9, R5W		 A/G C9 deficiency with dermatomyositis (3) 4
chr5:74017026
HEXB, L62S		 C/C Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) 4
chr5:176450403
FGFR4, P136L		 C/T {Cancer progression/metastasis} (3) 4
chr6:6119865
F13A1, P565L		 A/G Factor XIIIA deficiency, 613225 (3) 4
chr6:32022158
CFB, R32W		 C/T {Hemolytic uremic syndrome, atypical, susceptibility to, 4}, 612924 (3) 4
chr6:32022158
CFB, R32W		 C/T {Macular degeneration, age-related, reduced risk of}, 603075 (3) 4
chr6:80285260
LCA5, L24S		 A/G Leber congenital amaurosis 5, 604537 (3) 4
chr6:117057526
RSPH4A, L589P		 C/T Ciliary dyskinesia, primary, 11, 612649 (3) 4
chr6:160414399
IGF2R, R1619G		 G/G Hepatocellular carcinoma (3) 4
chr7:86894112
ABCB4, R652G		 C/T Cholestasis, familial intrahepatic, of pregnancy, 147480 (3) 4
chr7:86894112
ABCB4, R652G		 C/T Cholestasis, progressive familial intrahepatic 3, 602347 (3) 4
chr7:86894112
ABCB4, R652G		 C/T Gallbladder disease 1, 600803 (3) 4
chr7:92893689
CALCR, L447P		 A/G {Osteoporosis, postmenopausal, susceptibility}, 166710 (3) 4
chr8:8785304
MFHAS1, L892P		 G/G Malignant fibrous histiocytoma (2) 4
chr8:87657314
CNGB3, E755G		 C/T Achromatopsia-3, 262300 (3) 4
chr8:87657314
CNGB3, E755G		 C/T Macular degeneration, juvenile, 248200 (3) 4
chr8:118253964
SLC30A8, R276W		 C/T {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3) 4
chr8:134053240
TG, R1999W		 C/T Thyroid dyshormonogenesis 3, 274700 (3) 4
chr8:134053240
TG, R1999W		 C/T {Autoimmune thyroid disease, susceptibility to 3}, 608175 (3) 4
chr9:134193052
SETX, G1252R		 T/T Amyotrophic lateral sclerosis 4, juvenile, 602433 (3) 4
chr9:134193052
SETX, G1252R		 T/T Ataxia-ocular apraxia-2, 606002 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T Cerebrooculofacioskeletal syndrome 1, 214150 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T Cockayne syndrome, type B, 133540 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T De Sanctis-Cacchione syndrome, 278800 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T UV-sensitive syndrome, 600630 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T {Lung cancer}, 211980 (3) 4
chr10:50348375
ERCC6, R1213G		 C/T {Macular degeneration, age-related, susceptibility to 5} (3) 4
chr10:72752569
SLC29A3, R18G		 A/G Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, 612391 (3) 4
chr10:75343107
PLAU, L124P		 C/C {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) 4
chr10:115795046
ADRB1, G389R		 C/G [Resting heart rate], 607276 (3) 4
chr10:115795046
ADRB1, G389R		 C/G {Congestive heart failure and beta-blocker response, modifier of} (3) 4
chr11:59619680
MS4A2, E237G		 A/G {Atopy, susceptibility to}, 147050 (3) 4
chr11:68435538
IGHMBP2, L201S		 C/C Neuronopathy, distal hereditary motor, type VI, 604320 (3) 4
chr11:68611939
TPCN2, G734E		 A/G [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3) 4
chr11:112775225
ANKK1, G442R		 C/G Dopamine receptor D2, reduced brain density of (3) 4
chr11:117374880
IL10RA, R351G		 A/G Inflammatory bowel disease 28, autosomal recessive (3) 4
chr11:120494545
TECTA, R371G		 A/G Deafness, autosomal dominant 8/12, 601543 (3) 4
chr11:120494545
TECTA, R371G		 A/G Deafness, autosomal recessive 21, 603629 (3) 4
chr12:2661391
CACNA1C, P1820L		 T/T Brugada syndrome 3, 611875 (3) 4
chr12:2661391
CACNA1C, P1820L		 T/T Timothy syndrome, 601005 (3) 4
chr12:32913201
PKP2, L366P		 A/G Arrhythmogenic right ventricular dysplasia, familial, 9, 609040 (3) 4
chr12:50968192
KRT81, L248R		 C/C Monilethrix, 158000 (3) 4
chr14:49848566
L2HGDH, L18R		 C/C L-2-hydroxyglutaric aciduria, 236792 (3) 4
chr14:67319252
ZFYVE26, C1457Y		 C/T Spastic paraplegia 15, 270700 (3) 4
chr14:95226940
TCL1B, G93R		 A/G Leukemia/lymphoma, T-cell (2) 4
chr15:51790383
WDR72, P306L		 A/G Amelogenesis imperfecta, hypomaturation type, IIA3, 613211 (3) 4
chr15:98639099
ADAMTS17, S216L		 A/G Weill-Marchesani-like syndrome, 613195 (3) 4
chr16:46815699
ABCC11, G180R		 C/T [Earwax, wet/dry], 117800 (3) 4
chr16:82767239
LRRC50, L633S		 C/T Ciliary dyskinesia, primary, 13, 613193 (3) 4
chr17:1595252
SERPINF2, R33W		 C/T Alpha-2-plasmin inhibitor deficiency, 262850 (3) 4
chr17:17987914
MYO15A, G2018R		 A/G Deafness, autosomal recessive 3, 600316 (3) 4
chr17:23120724
NOS2, S608L		 A/G {Hypertension, susceptibility to}, 145500 (2) 4
chr17:23120724
NOS2, S608L		 A/G {Malaria, resistance to}, 611162 (3) 4
chr17:42715729
ITGB3, L59P		 C/T Glanzmann thrombasthenia, type B (3) 4
chr17:71265098
ITGB4, L1709P		 C/C Epidermolysis bullosa of hands and feet, 131800 (3) 4
chr17:71265098
ITGB4, L1709P		 C/C Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) 4
chr17:71265098
ITGB4, L1709P		 C/C Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) 4
chr18:42380907
LOXHD1, R1155G		 C/C Deafness, autosomal recessive 77, 613079 (3) 4
chr19:1339538
NDUFS7, P23L		 T/T Leigh syndrome, 256000 (3) 4
chr19:2200477
AMH, S49I		 T/T Persistent Mullerian duct syndrome, type I, 261550 (3) 4
chr19:18041413
IL12RB1, G378R		 C/G {Mycobacterial and salmonella infections, susceptibility to}, 209950 (3) 4
chr20:692415
C20orf54, P267L		 A/A Brown-Vialetto-Van Laere syndrome, 211530 (3) 4
chr22:17292678
PRODH, W185R		 A/G Hyperprolinemia, type I, 239500 (3) 4
chr22:17292678
PRODH, W185R		 A/G {Schizophrenia, susceptibility to, 4}, 600850 (3) 4
chr22:25192212
HPS4, E224G		 C/C Hermansky-Pudlak syndrome 4, 203300 (3) 4
chr1:63654140
ALG6, S304F		 T/T Congenital disorder of glycosylation, type Ic, 603147 (3) 3
chr2:1478934
TPO, T552P		 A/C Thrombocythemia, essential, 187950 (3) 3
chr2:1478934
TPO, T552P		 A/C Thyroid dyshormonogenesis 2A, 274500 (3) 3
chr2:179324132
TTN, D3747G		 C/C Cardiomyopathy, dilated, 1G, 604145 (3) 3
chr2:179324132
TTN, D3747G		 C/C Cardiomyopathy, familial hypertrophic, 9 (3) 3
chr2:179324132
TTN, D3747G		 C/C Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 3
chr2:179324132
TTN, D3747G		 C/C Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 3
chr2:179324132
TTN, D3747G		 C/C Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 3
chr2:179324132
TTN, D3747G		 C/C Tibial muscular dystrophy, tardive, 600334 (3) 3
chr2:179329196
TTN, G3580D		 T/T Cardiomyopathy, dilated, 1G, 604145 (3) 3
chr2:179329196
TTN, G3580D		 T/T Cardiomyopathy, familial hypertrophic, 9 (3) 3
chr2:179329196
TTN, G3580D		 T/T Muscular dystrophy, limb-girdle, type 2J, 608807 (3) 3
chr2:179329196
TTN, G3580D		 T/T Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3) 3
chr2:179329196
TTN, G3580D		 T/T Myopathy, proximal, with early respiratory muscle involvement, 603689 (3) 3
chr2:179329196
TTN, G3580D		 T/T Tibial muscular dystrophy, tardive, 600334 (3) 3
chr3:52827578
ITIH4, P668T		 G/T {Hypercholesterolemia, susceptibility to}, 143890 (3) 3
chr3:159803397
MLF1, P201T		 A/C Leukemia, acute myeloid, 601626 (1) 3
chr4:79206181
FRAS1, D32G		 A/G Fraser syndrome, 219000 (3) 3
chr4:79459087
FRAS1, D687G		 A/G Fraser syndrome, 219000 (3) 3
chr5:34040464
AMACR, G175D		 C/T Alpha-methylacyl-CoA racemase deficiency (3) 3
chr5:34040464
AMACR, G175D		 C/T Bile acid synthesis defect, congenital, 4, 214950 (3) 3
chr6:24704457
KIAA0319, T133P		 G/T {Dyslexia, susceptibility to, 2}, 600202 (3) 3
chr6:31432494
HLA-B, D98G		 C/C {Abacavir hypersensitivity, susceptibility to} (3) 3
chr6:31432494
HLA-B, D98G		 C/C {Drug-induced liver injury due to flucloxacillin} (3) 3
chr6:31432494
HLA-B, D98G		 C/C {Spondyloarthropathy, susceptibility to, 1}, 106300 (3) 3
chr6:31432494
HLA-B, D98G		 C/C {Stevens-Johnson syndrome, carbamazepine-induced, susceptibility to}, 608579 (3) 3
chr6:31432494
HLA-B, D98G		 C/C {Synovitis, chronic, susceptibility to} (3) 3
chr6:80253567
LCA5, G656D		 C/T Leber congenital amaurosis 5, 604537 (3) 3
chr6:166499260
T, G177D		 C/T {Neural tube defects, susceptibility to}, 182940 (3) 3
chr7:121440634
PTPRZ1, G1433D		 A/G {H. pylori infection, susceptibility to}, 600263 (1) 3
chr7:127038424
PAX4, H321P		 G/T Diabetes mellitus, ketosis-prone, 612227 (3) 3
chr7:127038424
PAX4, H321P		 G/T Diabetes mellitus, type 2, 125853 (3) 3
chr7:127038424
PAX4, H321P		 G/T Maturity-onset diabetes of the young, type IX, 612225 (3) 3
chr8:6289826
MCPH1, D344G		 G/G Microcephaly, autosomal recessive 1, 251200 (3) 3
chr8:6289826
MCPH1, D344G		 G/G Premature chromosome condensation with microcephaly and mental retardation, 606858 (3) 3
chr8:55701948
RP1, N985Y		 T/T Retinitis pigmentosa-1, 180100 (3) 3
chr8:55701948
RP1, N985Y		 T/T {Hypertriglyceridemia, susceptibility to}, 145750 (3) 3
chr8:133989700
TG, D1312G		 A/G Thyroid dyshormonogenesis 3, 274700 (3) 3
chr8:133989700
TG, D1312G		 A/G {Autoimmune thyroid disease, susceptibility to 3}, 608175 (3) 3
chr9:276593
DOCK8, P97T		 A/C Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3) 3
chr9:276593
DOCK8, P97T		 A/C Mental retardation, autosomal dominant 2 (3) 3
chr10:17187527
CUBN, P389T		 G/T Megaloblastic anemia-1, Finnish type, 261100 (3) 3
chr10:17196157
CUBN, F253S		 A/G Megaloblastic anemia-1, Finnish type, 261100 (3) 3
chr10:72781414
SLC29A3, S158F		 C/T Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism, 612391 (3) 3
chr11:20579618
SLC6A5, F124S		 C/C Hyperekplexia, 149400 (3) 3
chr11:88551344
TYR, S192Y		 A/A Albinism, oculocutaneous, type IA, 203100 (3) 3
chr11:88551344
TYR, S192Y		 A/A Albinism, oculocutaneous, type IB, 606952 (3) 3
chr11:88551344
TYR, S192Y		 A/A Waardenburg syndrome/albinism, digenic, 103470 (3) 3
chr11:88551344
TYR, S192Y		 A/A [Skin/hair/eye pigmentation 3, freckling], 601800 (3) 3
chr13:38162690
FREM2, F1070S		 C/C Fraser syndrome, 219000 (3) 3
chr14:49162221
C14orf104, D720G		 C/C Ciliary dyskinesia, primary, 10, 612518 (3) 3
chr15:42731049
SPG11, F463S		 G/G Spastic paraplegia-11, 604360 (3) 3
chr16:88363824
FANCA, G809D		 T/T Fanconi anemia, complementation group A, 227650 (3) 3
chr17:7520197
TP53, P72R		 C/G Adrenal cortical carcinoma, 202300 (3) 3
chr17:7520197
TP53, P72R		 C/G Breast cancer, 114480 (3) 3
chr17:7520197
TP53, P72R		 C/G Choroid plexus papilloma, 260500 (3) 3
chr17:7520197
TP53, P72R		 C/G Colorectal cancer, 114500 (3) 3
chr17:7520197
TP53, P72R		 C/G Hepatocellular carcinoma, 114550 (3) 3
chr17:7520197
TP53, P72R		 C/G Li-Fraumeni syndrome, 151623 (3) 3
chr17:7520197
TP53, P72R		 C/G Li-Fraumeni-like syndrome, 151623 (3) 3
chr17:7520197
TP53, P72R		 C/G Nasopharyngeal carcinoma, 161550 (3) 3
chr17:7520197
TP53, P72R		 C/G Osteosarcoma, 259500 (3) 3
chr17:7520197
TP53, P72R		 C/G Pancreatic cancer, 260350 (3) 3
chr17:17637480
RAI1, P165T		 A/C Smith-Magenis syndrome, 182290 (3) 3
chr19:13270472
CACNA1A, E992V		 A/T Cerebellar ataxia, pure (3) 3
chr19:13270472
CACNA1A, E992V		 A/T Episodic ataxia, type 2, 108500 (3) 3
chr19:13270472
CACNA1A, E992V		 A/T Hemiplegic migraine, familial, 141500 (3) 3
chr19:13270472
CACNA1A, E992V		 A/T Spinocerebellar ataxia-6, 183086 (3) 3
chr20:3141842
ITPA, P15T		 A/C [Inosine triphosphatase deficiency] (3) 3
chr20:44075813
MMP9, R574P		 C/C Metaphyseal anadysplasia 2, 613073 (3) 3
chr22:29341610
TCN2, R259P		 C/G Transcobalamin II deficiency (3) 3
chr22:29343419
TCN2, S348F		 C/T Transcobalamin II deficiency (3) 3
chrX:32413115
DMD, D759G		 C/C Becker muscular dystrophy, 300376 (3) 3
chrX:32413115
DMD, D759G		 C/C Cardiomyopathy, dilated, 3B, 302045 (3) 3
chrX:32413115
DMD, D759G		 C/C Duchenne muscular dystrophy, 310200 (3) 3