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
RS61751362 MECP2 Health Risk Pathogenic Rett syndrome, Autism
RS61751364 MECP2 Health Risk Likely pathogenic Rett syndrome, Rett syndrome
RS61751367 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61751370 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Autism
RS61751373 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS61751374 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS61751376 ABCA4 Health Risk Pathogenic Retinal disorder, Retinal disorder
RS61751377 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751381 ABCA4 Health Risk Pathogenic —
RS61751383 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, early-onset severe
RS61751384 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751385 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751386 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa 19
RS61751388 ABCA4 Health Risk Pathogenic Retinitis pigmentosa 19, Cone-rod dystrophy 3
RS61751389 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751391 ABCA4 Health Risk Pathogenic —
RS61751392 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751393 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751394 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61751395 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751396 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, Retinal dystrophy
RS61751397 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751398 ABCA4 Health Risk Pathogenic Retinal dystrophy, Age related macular degeneration 2
RS61751399 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa
RS61751400 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61751401 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61751402 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751403 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751404 ABCA4 Health Risk Pathogenic/Likely pathogenic; other Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61751405 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751406 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61751407 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy
RS61751408 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS61751409 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61751410 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751411 ABCA4 Health Risk Likely pathogenic —
RS61751412 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Severe early-childhood-onset retinal dystrophy
RS61751413 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61751418 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61751419 ABCA4 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 3, Age related macular degeneration 2
RS61751420 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS61751439 MECP2 Health Risk Likely pathogenic Rett syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS61751440 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS61751441 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61751443 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Neurodevelopmental disorder
RS61751444 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Autism
RS61751449 MECP2 Health Risk Pathogenic/Likely pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, Rett syndrome
RS61751450 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61751456 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61751457 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61751462 MMP20 Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta hypomaturation type 2A2, Inborn genetic diseases
RS61751491 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS61751493 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS61751494 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS61751497 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS61751498 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS61751541 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS61751544 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS61751555 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS61751556 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS61751577 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS61751594 CENPE Health Risk Conflicting classifications of pathogenicity —
RS61751635 TOP2B Health Risk Conflicting classifications of pathogenicity —
RS61751644 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS61751705 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS61751710 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Inborn genetic diseases
RS61751712 LIFR Health Risk Conflicting classifications of pathogenicity Stüve-Wiedemann syndrome 1, Stüve-Wiedemann syndrome 1
RS61751728 FRMD7 Health Risk Conflicting classifications of pathogenicity Nystagmus 1, congenital
RS61751735 LRIG2 Health Risk Conflicting classifications of pathogenicity —
RS61751955 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS61751972 DGKE Health Risk Conflicting classifications of pathogenicity DGKE-related disorder, Immunoglobulin-mediated membranoproliferative glomerulonephritis
RS61752060 CDKL5;RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS61752062 RS1 Health Risk Pathogenic Retinal dystrophy, Juvenile retinoschisis
RS61752063 RS1 Health Risk Pathogenic Juvenile retinoschisis, Retinal dystrophy
RS61752064 RS1 Health Risk Pathogenic —
RS61752065 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61752067 RS1 Health Risk Pathogenic Juvenile retinoschisis, Retinal dystrophy
RS61752068 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Retinal dystrophy
RS61752069 RS1 Health Risk Conflicting classifications of pathogenicity Juvenile retinoschisis, Juvenile retinoschisis
RS61752071 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61752072 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61752075 RS1 Health Risk Pathogenic Retinoschisis, Juvenile retinoschisis
RS61752092 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger)
RS61752093 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6A (Zellweger)
RS61752094 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6B
RS61752095 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6B
RS61752096 PEX10 Health Risk Pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder 6A (Zellweger)
RS61752097 PEX12 Health Risk Pathogenic Peroxisomal biogenesis disorder 3b, Peroxisomal biogenesis disorder 3b
RS61752099 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS61752100 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS61752101 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS61752102 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS61752103 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisomal biogenesis disorder 3b
RS61752104 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS61752105 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS61752106 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS61752107 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS61752108 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS61752109 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder
RS61752111 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
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