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
RS121913588 MPZ Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913589 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913590 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913593 MPZ Health Risk Pathogenic Neuropathy, congenital hypomyelinating
RS121913594 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913595 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B
RS121913596 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate D, Charcot-Marie-Tooth disease
RS121913597 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease type 1B
RS121913598 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B
RS121913599 MPZ Health Risk Pathogenic Roussy-Lévy syndrome, Charcot-Marie-Tooth disease type 1B
RS121913600 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913601 MPZ Health Risk Pathogenic/Likely pathogenic CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
RS121913602 MPZ Health Risk Pathogenic CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B
RS121913603 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913604 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease type 1B
RS121913605 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2I, Charcot-Marie-Tooth disease
RS121913608 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease
RS121913609 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2J, Charcot-Marie-Tooth disease
RS121913610 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia 1
RS121913611 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS121913612 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS121913613 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia 1, Congenital amegakaryocytic thrombocytopenia 1
RS121913614 MPL Health Risk Pathogenic Thrombocythemia 2, Congenital amegakaryocytic thrombocytopenia
RS121913615 MPL Health Risk Conflicting classifications of pathogenicity Myelofibrosis with myeloid metaplasia, Thrombocythemia 2
RS121913616 MPL Health Risk Pathogenic Myelofibrosis with myeloid metaplasia, Myelofibrosis with myeloid metaplasia
RS121913617 MYH3 Health Risk Pathogenic Freeman-Sheldon syndrome, Contractures
RS121913618 MYH3 Health Risk Pathogenic Freeman-Sheldon syndrome, Freeman-Sheldon syndrome
RS121913619 MYH3 Health Risk Pathogenic Freeman-Sheldon syndrome, Arthrogryposis
RS121913620 MYH3 Health Risk Pathogenic Freeman-Sheldon syndrome, Freeman-Sheldon syndrome
RS121913621 MYH3 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS121913623 MYH3 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS121913624 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy
RS121913625 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy
RS121913626 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913627 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy
RS121913628 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913629 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Cardiomyopathy
RS121913630 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy
RS121913631 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Primary familial hypertrophic cardiomyopathy
RS121913632 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913633 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913634 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913636 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS121913637 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS121913638 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913639 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913641 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Cardiovascular phenotype
RS121913642 MYH7 Health Risk Pathogenic Dilated cardiomyopathy 1S, Primary dilated cardiomyopathy
RS121913643 MYH7 Health Risk Pathogenic Dilated cardiomyopathy 1S, Hypertrophic cardiomyopathy
RS121913644 MYH7 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS121913647 MYH7 Health Risk Pathogenic MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS121913648 MYH7 Health Risk Pathogenic/Likely pathogenic MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS121913649 MYH7 Health Risk Pathogenic Myosin storage myopathy, Myosin storage myopathy
RS121913650 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913651 MYH7 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
RS121913654 MYH7 Health Risk Pathogenic/Likely pathogenic Left ventricular noncompaction 5, Hypertrophic cardiomyopathy 1
RS121913655 MYH9 Health Risk Pathogenic/Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MYH9-related disorder
RS121913656 MYH9 Health Risk Pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS121913657 MYH9 Health Risk Pathogenic/Likely pathogenic Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS121913659 NDUFV1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS121913660 NDUFV1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS121913661 NDUFV1 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 4
RS121913662 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS121913663 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 1F
RS121913664 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inherited Immunodeficiency Diseases
RS121913665 NFKBIA Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS121913667 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS121913668 MET Health Risk Pathogenic/Likely pathogenic Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS121913669 MET Health Risk Pathogenic Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS121913670 MET Health Risk Pathogenic/Likely pathogenic Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS121913671 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Embryonal rhabdomyosarcoma
RS121913676 MET Health Risk Pathogenic Pediatric hepatocellular carcinoma, Pediatric hepatocellular carcinoma
RS121913677 MET Health Risk Pathogenic Pediatric hepatocellular carcinoma, Pediatric hepatocellular carcinoma
RS121913678 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS121913679 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS121913680 KIT Health Risk Likely pathogenic Piebaldism, Gastrointestinal stromal tumor
RS121913684 KIT Health Risk Pathogenic Piebaldism with sensorineural deafness, Piebaldism with sensorineural deafness
RS121913685 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS121913687 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS1219150462 SLC12A3 Health Risk Pathogenic —
RS1219155526 FREM2 Health Risk Likely pathogenic FREM2-related disorder, Fraser syndrome 2
RS1219156713 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1219162630 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1219173005 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Cowden syndrome 6
RS121917703 FGF3 Health Risk Pathogenic Deafness with labyrinthine aplasia, microtia
RS121917704 FGF3 Health Risk Pathogenic/Likely pathogenic Deafness with labyrinthine aplasia, microtia
RS121917705 FGF3 Health Risk Likely pathogenic Deafness with labyrinthine aplasia, microtia
RS121917706 FGF3 Health Risk Pathogenic Deafness with labyrinthine aplasia, microtia
RS121917707 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Holoprosencephaly 9
RS121917708 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Holoprosencephaly 9
RS121917709 GLI3 Health Risk Pathogenic Postaxial polydactyly, type A1/B
RS121917711 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS121917712 GLI3 Health Risk Pathogenic/Likely pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS121917713 GLI3 Health Risk Pathogenic Polysyndactyly 4, Greig cephalopolysyndactyly syndrome
RS121917714 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS121917715 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS121917716 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Hirschsprung disease
RS121917719 PAX8 Health Risk Pathogenic Hypothyroidism, congenital
RS121917720 PAX9 Health Risk Pathogenic Tooth agenesis, selective
RS121917721 PEPD Health Risk Pathogenic Prolidase deficiency, Prolidase deficiency
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