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
RS2511483095 RNF213 Health Risk Likely pathogenic See cases, See cases
RS2511483243 RNF213 Health Risk Likely pathogenic Moyamoya disease 2, Moyamoya disease 2
RS2511483611 LOXHD1 Health Risk Likely pathogenic —
RS2511487515 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511488169 RAX Health Risk Likely pathogenic Isolated microphthalmia 3, Isolated microphthalmia 3
RS2511488658 RAX Health Risk Pathogenic Isolated microphthalmia 3, Isolated microphthalmia 3
RS2511490484 RNF213 Health Risk Pathogenic —
RS2511491044 KIF26A Health Risk Likely pathogenic Cortical dysplasia, complex
RS2511491127 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511491486 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511492071 KIF26A Health Risk Pathogenic Cortical dysplasia, complex
RS2511493694 KIF26A Health Risk Likely pathogenic Cortical dysplasia, complex
RS2511494250 LOXHD1 Health Risk Likely pathogenic —
RS2511494549 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511495207 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511495976 LOXHD1 Health Risk Pathogenic —
RS2511496807 TCF4 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2511496811 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511498290 TCF4 Health Risk Likely pathogenic TCF4-related disorder, TCF4-related disorder
RS2511499126 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2511499685 TCF4 Health Risk Pathogenic Developmental disorder, Developmental disorder
RS2511499903 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Corneal dystrophy
RS2511501679 LAMA3 Health Risk Pathogenic —
RS2511505737 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS2511506957 LAMA3 Health Risk Pathogenic —
RS2511512432 FECH Health Risk Pathogenic —
RS2511512805 LOXHD1 Health Risk Pathogenic —
RS2511512891 LOXHD1 Health Risk Pathogenic —
RS2511513107 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2511513261 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511513874 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511517010 LMAN1 Health Risk Likely pathogenic —
RS2511517143 FECH Health Risk Pathogenic —
RS2511517215 FECH Health Risk Pathogenic Autosomal erythropoietic protoporphyria, Autosomal erythropoietic protoporphyria
RS2511517302 FECH Health Risk Pathogenic —
RS2511517502 FECH Health Risk Pathogenic —
RS2511517542 FECH Health Risk Pathogenic —
RS2511517710 FECH Health Risk Likely pathogenic —
RS2511528486 FECH Health Risk Likely pathogenic —
RS2511528538 FECH Health Risk Likely pathogenic Protoporphyria, erythropoietic
RS2511528572 FECH Health Risk Conflicting classifications of pathogenicity —
RS2511528650 FECH Health Risk Pathogenic —
RS2511539097 FECH Health Risk Likely pathogenic FECH-related disorder, FECH-related disorder
RS2511542522 RNF213 Health Risk Likely pathogenic Moyamoya disease 2, Moyamoya disease 2
RS2511543235 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2511546700 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS2511547533 CCBE1 Health Risk Pathogenic —
RS2511547897 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511547936 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511547994 LAMA3 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 2B
RS2511548203 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS2511556441 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS2511556556 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS2511560242 DNAH17 Health Risk Likely pathogenic Spermatogenic failure 39, Spermatogenic failure 39
RS2511564239 MALT1 Health Risk Pathogenic —
RS2511566983 TNFRSF11A Health Risk Likely pathogenic Autosomal recessive osteopetrosis 7, Autosomal recessive osteopetrosis 7
RS2511568251 LOXHD1 Health Risk Pathogenic —
RS2511568423 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511568533 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511569016 LOXHD1 Health Risk Pathogenic —
RS2511570088 LOXHD1 Health Risk Pathogenic —
RS2511570527 LOXHD1 Health Risk Pathogenic —
RS2511570627 LOXHD1 Health Risk Likely pathogenic —
RS2511572182 RNF213 Health Risk Likely pathogenic Moyamoya disease 2, Moyamoya disease 2
RS2511575230 NARS1 Health Risk Likely pathogenic —
RS2511575841 TNFRSF11A Health Risk Pathogenic —
RS2511575856 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511576695 NARS1 Health Risk Pathogenic NARS1-related disorder, NARS1-related disorder
RS2511577420 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511577837 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511580498 LAMA3 Health Risk Pathogenic —
RS2511581197 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2511581925 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2511585414 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2511591727 TNFRSF11A Health Risk Pathogenic —
RS2511592639 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511593052 EPG5 Health Risk Likely pathogenic —
RS2511593094 TNFRSF11A Health Risk Pathogenic —
RS2511593392 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511593479 EPG5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2511598176 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511598355 LOXHD1 Health Risk Pathogenic —
RS2511598572 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511599836 LOXHD1 Health Risk Pathogenic —
RS2511609422 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511609488 LAMA3 Health Risk Pathogenic —
RS2511610263 ATP8B1 Health Risk Pathogenic —
RS2511612853 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511612946 CCBE1 Health Risk Pathogenic —
RS2511613077 LOXHD1 Health Risk Pathogenic —
RS2511614912 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511616619 ATP8B1 Health Risk Pathogenic —
RS2511618910 ATP8B1 Health Risk Pathogenic —
RS2511619782 ATP8B1 Health Risk Pathogenic —
RS2511619878 ATP8B1 Health Risk Pathogenic —
RS2511625072 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511625410 ATP8B1 Health Risk Pathogenic —
RS2511625419 ATP8B1 Health Risk Pathogenic —
RS2511625549 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS2511627573 GREB1L Health Risk Likely pathogenic GREB1L-related disorder, GREB1L-related disorder
« Prev 1 ... 2243 2244 2245 2246 2247 2248 2249 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →