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
RS2505719610 ALPK3 Health Risk Pathogenic —
RS2505719661 ALPK3 Health Risk Pathogenic —
RS2505719933 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505720068 ALPK3 Health Risk Pathogenic —
RS2505720215 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505720338 ALPK3 Health Risk Pathogenic —
RS2505720575 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505720732 ALPK3 Health Risk Pathogenic —
RS2505720978 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505720989 ALPK3 Health Risk Pathogenic —
RS2505721119 ALPK3 Health Risk Pathogenic/Likely pathogenic —
RS2505721388 ALPK3 Health Risk Pathogenic —
RS2505721674 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505721718 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505722050 ALPK3 Health Risk Pathogenic —
RS2505722343 ALPK3 Health Risk Pathogenic —
RS2505722420 ALPK3 Health Risk Pathogenic —
RS2505722433 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505722472 ALPK3 Health Risk Pathogenic —
RS2505722565 ALPK3 Health Risk Pathogenic —
RS2505722576 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505722754 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505722871 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS2505722938 ALPK3 Health Risk Likely pathogenic —
RS2505723818 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS2505723820 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505723959 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505724060 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505724394 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505724467 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2505724567 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505724668 ALPK3 Health Risk Likely pathogenic —
RS2505724987 ALPK3 Health Risk Likely pathogenic —
RS2505725884 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS2505726481 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505727260 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505727425 ALPK3 Health Risk Pathogenic —
RS2505727517 ALPK3 Health Risk Likely pathogenic ALPK3-related disorder, ALPK3-related disorder
RS2505727615 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2505727626 ALPK3 Health Risk Pathogenic —
RS2505727696 SPG11 Health Risk Pathogenic Inborn genetic diseases, Hereditary spastic paraplegia 11
RS2505728562 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505728928 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505729570 ALPK3 Health Risk Pathogenic —
RS2505729802 ALPK3 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2505729878 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS2505736836 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS2505745149 LRRK1 Health Risk Pathogenic —
RS2505754783 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505755130 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505755152 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505758285 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505759097 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505759290 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505760925 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505760991 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505761195 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS2505768771 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505769438 NR2F2 Health Risk Likely pathogenic NR2F2 associated disorders, NR2F2 associated disorders
RS2505770216 NR2F2 Health Risk Pathogenic —
RS2505774176 NR2F2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2505774216 NR2F2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2505774507 NR2F2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2505774793 NR2F2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505775271 NR2F2 Health Risk Likely pathogenic —
RS2505775333 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505775559 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505775597 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505775608 FBN1 Health Risk Likely pathogenic Weill-Marchesani syndrome 2, dominant
RS2505775624 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505775671 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505775850 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505775858 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505779155 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505779180 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505779226 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505779274 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS2505779321 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS2505779337 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2505779992 NR2F2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2505780251 NR2F2 Health Risk Likely pathogenic NR2F2 associated disorders, NR2F2 associated disorders
RS2505780323 NR2F2 Health Risk Likely pathogenic 46, xx sex reversal 5
RS2505794258 ABCD4 Health Risk Likely pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS2505795420 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505808015 NIN Health Risk Conflicting classifications of pathogenicity —
RS2505809803 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811178 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811185 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811190 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811218 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811246 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811515 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811546 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811587 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505811612 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505813008 CLCN7 Health Risk Likely pathogenic —
RS2505813091 CLCN7 Health Risk Pathogenic —
RS2505813236 CLCN7 Health Risk Likely pathogenic —
RS2505813641 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2505813657 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
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