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
RS2490087462 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490088747 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490090743 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS2490090849 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS2490091018 HSD17B3 Health Risk Conflicting classifications of pathogenicity Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS2490099417 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490099465 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490099543 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490099762 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490101786 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS2490102018 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS2490104710 TGFBR1 Health Risk Pathogenic Multiple self-healing squamous epithelioma, Multiple self-healing squamous epithelioma
RS2490105161 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2490107569 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490108821 ROR2 Health Risk Pathogenic —
RS2490108901 PHF2 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder, Autism spectrum disorder
RS2490109298 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Brachydactyly type B1
RS2490114604 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490115316 INVS Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Infantile nephronophthisis
RS2490115774 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490115909 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490118043 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490118090 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490118392 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490118398 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490120043 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490120355 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490120654 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490122116 ERCC6L2 Health Risk Pathogenic —
RS2490122574 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490122812 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490124103 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490124418 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490124535 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490124556 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490126088 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490126094 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490127977 IARS1 Health Risk Likely pathogenic —
RS2490128772 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490128994 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490129062 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490129172 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490130765 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS2490134421 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2490137922 INVS Health Risk Likely pathogenic Infantile nephronophthisis, Infantile nephronophthisis
RS2490141047 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490142615 TG Health Risk Pathogenic —
RS2490144577 ERCC6L2 Health Risk Pathogenic —
RS2490145569 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490157836 TRPM6 Health Risk Likely pathogenic —
RS2490161693 VPS13B Health Risk Pathogenic Cohen syndrome, VPS13B-related disorder
RS2490162265 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490162291 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490162302 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490163240 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490163288 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2490163685 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490163758 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2490167392 ROR2 Health Risk Pathogenic —
RS2490167919 ROR2 Health Risk Pathogenic —
RS2490170832 TG Health Risk Likely pathogenic —
RS2490182528 TEK Health Risk Likely pathogenic —
RS2490183656 ERCC6L2 Health Risk Pathogenic —
RS2490184373 XPA Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS2490184604 XPA Health Risk Pathogenic —
RS2490184698 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490184877 XPA Health Risk Pathogenic —
RS2490184995 XPA Health Risk Pathogenic —
RS2490185067 XPA Health Risk Pathogenic —
RS2490192138 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490199594 HSD17B3 Health Risk Pathogenic —
RS2490205385 NTRK2 Health Risk Likely pathogenic —
RS2490207160 TRPM6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2490210441 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS2490210465 HSD17B3 Health Risk Pathogenic —
RS2490210569 HSD17B3 Health Risk Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS2490215392 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490215519 XPA Health Risk Likely pathogenic —
RS2490221098 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490221130 XPA Health Risk Pathogenic —
RS2490221202 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490221510 XPA Health Risk Pathogenic —
RS2490221605 XPA Health Risk Pathogenic —
RS2490222983 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490223025 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490227153 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490227298 XPA Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2490236024 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490236999 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490237527 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490237534 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS2490237760 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490237785 XPA Health Risk Pathogenic —
RS2490237898 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2490246360 XPA Health Risk Pathogenic —
RS2490246666 XPA Health Risk Pathogenic —
RS2490246841 XPA Health Risk Pathogenic —
RS2490246990 XPA Health Risk Pathogenic —
RS2490247599 XPA Health Risk Pathogenic —
RS2490250508 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
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