Find and classify phenotypic correlations for variations in whole genomes

Chris Ball3

Date of birth: 1981-12-01
Male, European, West Asian

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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

Coordinates
Function
 Genotype
Associated trait

No results available

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 Becker muscular dystrophy, 300376 (3) 3
chrX:32413115
DMD, D759G		 C Cardiomyopathy, dilated, 3B, 302045 (3) 3
chrX:32413115
DMD, D759G		 C Duchenne muscular dystrophy, 310200 (3) 3