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
RS201408083 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201408175 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201408393 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, TCN2-related disorder
RS201408488 TFRC Health Risk Conflicting classifications of pathogenicity TFRC-related combined immunodeficiency, TFRC-related combined immunodeficiency
RS201408725 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS201409034 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Inborn genetic diseases
RS201409107 PKD1 Health Risk Conflicting classifications of pathogenicity Uterine carcinosarcoma, Autosomal dominant polycystic kidney disease
RS201409113 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS201410285 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, Inborn genetic diseases
RS201410489 CROCC Health Risk Conflicting classifications of pathogenicity —
RS201410617 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS201410638 GCLC Health Risk Conflicting classifications of pathogenicity —
RS201410680 MYO5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201410793 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS201411175 SIN3B Health Risk Conflicting classifications of pathogenicity —
RS201411537 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Hemolytic uremic syndrome
RS201411863 TRIM69 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS201412035 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS201412413 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201412693 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
RS201412708 TMEM231 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 11
RS201412882 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS201413207 MMP14 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201413321 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS201413387 RUBCN Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15
RS201413825 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS201414160 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS201414732 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Alport syndrome
RS201414754 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201414940 CCDC88C Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS201414958 DNAH2 Health Risk Pathogenic Spermatogenic failure 45, Spermatogenic failure 45
RS201415075 WDR13 Health Risk Conflicting classifications of pathogenicity —
RS201415443 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS201415651 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 3
RS201415896 TSEN54 Health Risk Conflicting classifications of pathogenicity —
RS201415996 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1B, Peroxisome biogenesis disorder 1A (Zellweger)
RS201416081 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201416399 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS201416447 ABCB6 Health Risk Conflicting classifications of pathogenicity —
RS201416954 SEC63 Health Risk Conflicting classifications of pathogenicity Polycystic liver disease 2, Polycystic liver disease 2
RS201417343 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201417512 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS201417711 KMT2B Health Risk Conflicting classifications of pathogenicity KMT2B-related disorder, KMT2B-related disorder
RS201418071 MYH14 Health Risk Conflicting classifications of pathogenicity —
RS201418194 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS201418203 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS201418257 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS201418615 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201418838 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS201419039 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS201419047 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201419174 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Benign familial hematuria
RS201419367 RIPPLY2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 6, autosomal recessive
RS201419477 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS201419564 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201419873 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS201420077 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201420419 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS201420507 DIO1 Health Risk Pathogenic Thyroid hormone metabolism, abnormal
RS201420881 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS201421128 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201421156 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, TTN-related disorder
RS201421847 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS201421932 CRYBA4 Health Risk Conflicting classifications of pathogenicity Cataract 23, Inborn genetic diseases
RS201422368 DRAM2 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 21
RS2014223788 IGF1R Health Risk Likely pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS201422605 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS201422612 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS201422773 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS201422815 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Epilepsy
RS201422931 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, See cases
RS201423234 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS201423456 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Inborn genetic diseases
RS201423814 EPHA4 Health Risk Conflicting classifications of pathogenicity —
RS201424543 ARSL Health Risk Conflicting classifications of pathogenicity X-linked chondrodysplasia punctata 1, Chondrodysplasia punctata
RS201425107 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS201425412 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS201425631 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS201425706 MASTL Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Thrombocytopenia
RS201425936 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS201426128 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS201426199 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201426239 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201426778 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS201427153 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS201427270 SYP Health Risk Conflicting classifications of pathogenicity —
RS201427280 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS201427580 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201428060 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS201428088 WASHC4 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 43
RS201428095 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS201428777 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Inborn genetic diseases
RS201428805 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS201429571 TNFAIP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, familial
RS201430235 CEP55 Health Risk Pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
RS201430951 NUBPL Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, Inborn genetic diseases
RS201430964 SCN9A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 7
RS201431055 VPS33B Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS201431173 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS201431517 MTFMT Health Risk Pathogenic Combined oxidative phosphorylation defect type 15, Leigh syndrome
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