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
RS2526459784 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2526461415 CD46 Health Risk Likely pathogenic —
RS2526465386 ADAR Health Risk Likely pathogenic —
RS2526467788 DHX9 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder, autosomal dominant 75
RS2526472593 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS2526493515 LORICRIN Health Risk Pathogenic Loricrin keratoderma, Loricrin keratoderma
RS2526494253 LORICRIN Health Risk Pathogenic Loricrin keratoderma, Loricrin keratoderma
RS2526494351 AP4B1 Health Risk Likely pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526494665 ADAR Health Risk Likely pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526495275 AP4B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 47
RS2526507579 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526514076 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526514177 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526528732 CD46 Health Risk Conflicting classifications of pathogenicity Familial Atypical Hemolytic-Uremic Syndrome, Atypical hemolytic-uremic syndrome
RS2526535535 SDHC Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 3, Pheochromocytoma/paraganglioma syndrome 3
RS2526536278 SDHC Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 3, Gastrointestinal stromal tumor
RS2526542281 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526542341 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526542722 CD46 Health Risk Likely pathogenic —
RS2526542785 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526543505 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526556797 AP4B1 Health Risk Likely pathogenic AP4B1-related disorder, AP4B1-related disorder
RS2526557123 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526558374 TOR1AIP1 Health Risk Pathogenic Centronuclear myopathy, Centronuclear myopathy
RS2526559464 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526559702 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526559709 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526569302 SERPINC1 Health Risk Pathogenic —
RS2526569822 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526570241 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526570301 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526571722 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526572347 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526572412 SERPINC1 Health Risk Likely pathogenic SERPINC1-related disorder, SERPINC1-related disorder
RS2526572615 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS2526572703 SDHC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2526574712 ADAMTSL4 Health Risk Pathogenic —
RS2526576921 SERPINC1 Health Risk Pathogenic —
RS2526581062 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526581512 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526581754 AP4B1 Health Risk Likely pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526582013 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526582277 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526582621 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Coloboma of optic nerve
RS2526583249 AP4B1 Health Risk Likely pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526583975 DMD Health Risk Pathogenic See cases, See cases
RS2526585174 ADAMTSL4 Health Risk Pathogenic —
RS2526587221 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2526588902 ADAMTSL4 Health Risk Pathogenic —
RS2526589151 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526594003 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526594015 SERPINC1 Health Risk Likely pathogenic —
RS2526594458 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526594781 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526594866 SERPINC1 Health Risk Pathogenic/Likely pathogenic SERPINC1-related disorder, SERPINC1-related disorder
RS2526594923 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526595268 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526595697 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526595830 SERPINC1 Health Risk Likely pathogenic SERPINC1-related disorder, SERPINC1-related disorder
RS2526596951 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526606398 ADAR Health Risk Pathogenic —
RS2526606477 ADAMTSL4 Health Risk Pathogenic —
RS2526606588 ADAR Health Risk Likely pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526609276 ADAMTSL4 Health Risk Pathogenic —
RS2526612634 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526612663 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526612854 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS2526615034 ADAR Health Risk Likely pathogenic Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS2526615995 ADAMTSL4 Health Risk Pathogenic —
RS2526619291 UBAP2L Health Risk Pathogenic Neurodevelopmental disorder with impaired language, behavioral abnormalities
RS2526620399 ADAMTSL4 Health Risk Pathogenic —
RS2526630468 ADAMTSL4 Health Risk Pathogenic —
RS2526631072 ADAMTSL4 Health Risk Pathogenic —
RS2526631120 AP4B1 Health Risk Pathogenic —
RS2526632804 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526644607 ADAR Health Risk Likely pathogenic —
RS2526645023 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526646459 ADAR Health Risk Likely pathogenic ADAR-related disorder, ADAR-related disorder
RS2526646702 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526653712 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526655171 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526655410 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526658034 ADAMTSL4 Health Risk Likely pathogenic —
RS2526661759 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526666859 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526668106 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS2526668775 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526669183 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS2526669346 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS2526669442 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2526671188 ALDH18A1 Health Risk Likely pathogenic ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome
RS2526690923 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526692527 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS2526695675 ADAMTSL4 Health Risk Pathogenic —
RS2526695830 ADAMTSL4 Health Risk Pathogenic —
RS2526696945 ALDH18A1 Health Risk Pathogenic de Barsy syndrome, Cutis laxa
RS2526705625 ADAMTSL4 Health Risk Pathogenic —
RS2526707715 ADAMTSL4 Health Risk Pathogenic —
RS2526707946 ADAMTSL4 Health Risk Pathogenic —
RS2526708427 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
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