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
RS1567185163 PKD1 Health Risk Pathogenic —
RS1567185178 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567185212 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567185220 ACAN Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, aggrecan type
RS1567185468 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS1567185603 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567185770 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567185775 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567186165 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567186399 PKD1 Health Risk Likely pathogenic —
RS1567186574 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567186581 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567186585 ACAN Health Risk Pathogenic Spondyloepimetaphyseal dysplasia, aggrecan type
RS1567186591 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567186613 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567186614 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567186779 POLG Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
RS1567186787 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567186946 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567187057 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567187093 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567187103 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567187326 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Malignant tumor of urinary bladder
RS1567187389 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567187420 PKD1 Health Risk Pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease
RS1567187434 PKD1 Health Risk Likely pathogenic —
RS1567187445 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1567187745 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567187766 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567187837 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS1567188178 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, POLG-related disorder
RS1567188446 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567188588 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567188632 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567190244 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease
RS1567190247 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567191044 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, PKD1-related disorder
RS1567191094 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567191145 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567191179 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567191334 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS1567191417 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome 4b
RS1567191474 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567191509 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567191534 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS1567191601 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567191609 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567191874 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS1567192203 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567192229 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567192286 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567192623 PKD1 Health Risk Pathogenic/Likely pathogenic PKD1-related disorder, PKD1-related disorder
RS1567192788 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567192790 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567192879 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567192884 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567193844 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567194013 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567194019 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567194243 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1567194928 PKD1 Health Risk Likely pathogenic —
RS1567195059 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567195285 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567195445 ACAN Health Risk Conflicting classifications of pathogenicity ACAN-related disorder, ACAN-related disorder
RS1567195868 PKD1 Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS1567196052 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1567196314 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567197213 IGF1R Health Risk Pathogenic —
RS1567198410 PKD1 Health Risk Likely pathogenic —
RS1567198691 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1567198751 MAPK8IP3 Health Risk Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1567200098 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1567200117 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567200202 OCA2 Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS1567200450 PKD1 Health Risk Likely pathogenic Renal cyst, Renal cyst
RS1567200516 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567201083 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567201338 PKD1 Health Risk Likely pathogenic —
RS1567201999 PKD1 Health Risk Pathogenic —
RS1567202189 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Renal insufficiency
RS1567202350 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567202750 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1567203083 MAPK8IP3 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS1567204146 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS1567204631 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567204928 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567204932 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1567205637 PKD1 Health Risk Pathogenic —
RS1567206560 PKD1 Health Risk Likely pathogenic —
RS1567206632 PKD1 Health Risk Pathogenic —
RS1567206733 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567206753 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567206756 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567206799 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1567206804 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567206813 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1567206823 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1567206904 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1567206909 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1567207029 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
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