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
RS2137620740 BRCA2 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS2137621956 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137622048 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137622269 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137622356 BRCA2 Health Risk Pathogenic Breast carcinoma, Breast carcinoma
RS2137622518 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137622570 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137622613 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137622655 FLT3 Health Risk Likely pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS2137622663 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2137622915 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137622994 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137623007 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137623016 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137623099 BRCA2 Health Risk Pathogenic —
RS2137623320 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137623346 BRCA2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2137623373 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137623395 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137623768 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137624079 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137624355 WNT1 Health Risk Pathogenic —
RS2137624440 CEP290 Health Risk Pathogenic/Likely pathogenic CEP290-related disorder, Joubert syndrome
RS2137624455 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137624524 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137624585 WNT1 Health Risk Likely pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS2137624652 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137625077 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137625115 WNT1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 15, OSTEOPOROSIS
RS2137625213 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137625334 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, BRCA2-related disorder
RS2137625424 WNT1 Health Risk Likely pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS2137625459 WNT1 Health Risk Likely pathogenic Osteogenesis imperfecta type 15, Osteogenesis imperfecta type 15
RS2137625533 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137625568 BRCA2 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS2137625584 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137625817 BRCA2 Health Risk Pathogenic —
RS2137625880 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137625887 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137625898 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137625941 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137628257 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137629384 ANO6 Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS2137631671 HPD Health Risk Pathogenic Hawkinsinuria, Tyrosinemia type III
RS2137634136 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137636328 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137636629 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2137636957 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Abnormal central motor function
RS2137637783 SACS Health Risk Pathogenic —
RS2137637877 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137639039 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137639179 EDNRB Health Risk Likely pathogenic —
RS2137641201 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137643958 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137644682 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2137644772 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS2137645390 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137652071 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137652091 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137652215 BRCA2 Health Risk Likely pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS2137652411 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137652666 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137652728 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137652875 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2137652993 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2137653139 BRCA2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2137653262 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137653303 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137653701 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137654056 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137654181 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137654231 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137654496 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137654501 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137654624 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137658723 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137658819 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2137658996 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137659925 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137661795 CEP290 Health Risk Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137662441 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137662565 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137662870 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137663102 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137663318 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137663442 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS2137664232 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137664254 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137665576 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2137666093 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, BRCA2-related disorder
RS2137666781 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137667100 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137667759 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137667834 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137668083 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137670642 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS2137672729 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2137673584 KCNA1 Health Risk Pathogenic/Likely pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS2137673633 KCNA1 Health Risk Pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS2137673640 KCNA1 Health Risk Pathogenic Episodic ataxia type 1, Episodic ataxia type 1
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