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
RS371720691 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS371723224 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS371724771 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS371724951 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS371725574 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371725918 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS371729802 FGFR3 Health Risk Conflicting classifications of pathogenicity Muenke syndrome, Muenke syndrome
RS371730430 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Hearing loss
RS371731636 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS371731645 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371731991 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS371732068 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS371733571 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS371735276 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS371735739 CCDC88A Health Risk Conflicting classifications of pathogenicity —
RS371735891 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS371736153 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS371736246 TTN Health Risk Conflicting classifications of pathogenicity —
RS371737085 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS371738215 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371738291 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS371738874 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS371739150 KRT6A Health Risk Conflicting classifications of pathogenicity Pachyonychia congenita 3, Pachyonychia congenita 3
RS371739743 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371739894 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, DE SANCTIS-CACCHIONE SYNDROME
RS371740174 ANO6 Health Risk Likely pathogenic —
RS371740473 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS371740578 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS371741201 SPTBN5 Health Risk Conflicting classifications of pathogenicity —
RS371741722 POMGNT1 Health Risk Conflicting classifications of pathogenicity —
RS371741845 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS371742009 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS371744393 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS371745279 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS371745464 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS371745862 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS371746550 IL17RC Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS371747622 MOGS Health Risk Conflicting classifications of pathogenicity MOGS-congenital disorder of glycosylation, Inborn genetic diseases
RS371747700 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 1, Autoinflammatory syndrome
RS371748491 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371749379 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS371749889 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS371750924 LBR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371751000 HIBCH Health Risk Conflicting classifications of pathogenicity 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS371751084 CHKB Health Risk Pathogenic Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS371751108 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS371751910 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS371751945 DNAJC21 Health Risk Conflicting classifications of pathogenicity —
RS371752797 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371752832 GATA1 Health Risk Conflicting classifications of pathogenicity GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS371752870 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS371753464 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS371753672 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS371754365 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS371757002 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS371758545 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS371759532 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS371759652 HNF1A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS371760034 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS371760552 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS371760619 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS371761387 CD27 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency, Immunodeficiency
RS371761874 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS371762181 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS371762530 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS371762531 VIPAS39 Health Risk Conflicting classifications of pathogenicity VIPAS39-related disorder, VIPAS39-related disorder
RS371763360 LRP4 Health Risk Conflicting classifications of pathogenicity Sclerosteosis 2, Cenani-Lenz syndactyly syndrome
RS371763584 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371763907 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS371764714 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS371764964 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371765378 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS371765552 ROBO1 Health Risk Pathogenic —
RS371765751 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS371766356 CA2 Health Risk Conflicting classifications of pathogenicity Osteopetrosis with renal tubular acidosis, CA2-related disorder
RS371766742 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS371767164 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS371768338 RNF168 Health Risk Likely pathogenic —
RS371768924 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, NBEAL2-related disorder
RS371769807 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS371770198 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371770632 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS371771414 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS371771891 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS371772243 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS371772807 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS371773374 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371773406 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS371775791 NIPA2 Health Risk Likely pathogenic —
RS371775935 ANLN Health Risk Conflicting classifications of pathogenicity —
RS371776128 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Craniosynostosis syndrome
RS371776176 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS371776692 GPNMB Health Risk Likely pathogenic GPNMB-related disorder, Familial cancer of breast
RS371776794 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS371777049 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Hearing impairment
RS371777070 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS371777895 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS371777923 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS371779379 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS371779795 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Inborn genetic diseases
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