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
RS1057516476 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516477 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1057516478 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057516479 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1057516480 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057516481 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS1057516482 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1057516484 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516485 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS1057516486 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516487 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516488 FANCC Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS1057516489 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516490 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516491 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1057516493 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057516494 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516496 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, Deficiency of butyrylcholinesterase
RS1057516497 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS1057516498 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS1057516499 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1057516501 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516502 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1057516503 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1057516504 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS1057516505 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1057516506 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1057516507 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1057516509 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1057516510 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516511 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1057516512 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516513 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516514 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS1057516515 SGCB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy
RS1057516516 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1057516518 BCS1L Health Risk Likely pathogenic GRACILE syndrome, GRACILE syndrome
RS1057516519 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1057516520 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516521 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1057516522 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1057516523 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS1057516524 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516525 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516526 ALPL Health Risk Pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS1057516528 SLC17A5 Health Risk Likely pathogenic Salla disease, Salla disease
RS1057516529 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1057516531 MCOLN1 Health Risk Likely pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1057516532 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516533 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS1057516534 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1057516535 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1057516536 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1057516537 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1057516538 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516539 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS1057516540 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057516541 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516542 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1057516543 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516544 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS1057516546 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516547 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS1057516548 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057516549 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1057516550 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-related disorder
RS1057516551 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516552 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1057516553 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516554 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516555 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1057516556 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS1057516558 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516559 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516560 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516561 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1057516562 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516563 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516564 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057516565 AGA Health Risk Likely pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS1057516566 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516567 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516568 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516569 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516570 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516571 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1057516572 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1057516573 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1057516574 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Rhizomelic chondrodysplasia punctata type 1
RS1057516575 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1057516576 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1057516577 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516578 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516579 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1057516580 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516581 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516582 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 8, Neuronal ceroid lipofuscinosis
RS1057516584 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516585 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1057516586 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
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