SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1593645393 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1593652717 ATP7B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1593671769 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1593672840 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1593680974 ATP7B Health Risk Likely pathogenic —
RS1593681941 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1593696233 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
RS1593696238 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593697433 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1593707749 POLE Health Risk Pathogenic —
RS1593708047 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593708662 POLE Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593708851 POLE Health Risk Pathogenic —
RS1593709229 POLE Health Risk Pathogenic —
RS1593715351 POLE Health Risk Pathogenic —
RS1593719605 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593721930 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593722018 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593722216 POLE Health Risk Likely pathogenic —
RS1593722897 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1593722956 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1593726081 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1593726648 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1593726901 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1593727501 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593727638 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593728038 POLE Health Risk Pathogenic —
RS1593729195 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593729546 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593730641 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593730668 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593731554 POLE Health Risk Pathogenic —
RS1593732546 POLE Health Risk Pathogenic —
RS1593732836 POLE Health Risk Pathogenic —
RS1593733806 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593733949 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1593734374 POLE Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593735965 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593736079 POLE Health Risk Pathogenic —
RS1593736291 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593748950 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593749688 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593766726 POLE Health Risk Pathogenic —
RS1593772932 POLE Health Risk Pathogenic —
RS1593775055 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1593775696 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593775821 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593775859 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593776083 POLE Health Risk Pathogenic —
RS1593776227 EED Health Risk Likely pathogenic Cohen-Gibson syndrome, Cohen-Gibson syndrome
RS1593777350 POLE Health Risk Pathogenic —
RS1593777633 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial colorectal cancer type X
RS1593777670 POLE Health Risk Likely pathogenic —
RS1593782203 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593782262 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593782279 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593783115 POLE Health Risk Pathogenic —
RS1593787510 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1593787789 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1593790219 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593828714 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1593835248 DIS3 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1593836748 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1593846841 MYBPC1 Health Risk Pathogenic Myopathy, congenital
RS1593847163 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1593876058 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1593879845 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593880204 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS1593880798 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593880835 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593881162 TBX5 Health Risk Pathogenic/Likely pathogenic Aortic valve disease 2, Cardiovascular phenotype
RS1593882341 BRCA2 Health Risk Likely pathogenic Ovarian serous surface papillary adenocarcinoma, Ovarian serous surface papillary adenocarcinoma
RS1593882502 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593882540 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593882605 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593882934 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593883930 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS1593885822 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593885872 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593886887 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1593886998 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593887544 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1593890163 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593890204 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS1593890284 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593891249 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593891336 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593891360 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593891461 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593891489 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593891502 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593891536 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593891539 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593891571 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593891700 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593891725 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593891760 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1593891776 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1593891845 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593891870 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
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