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
RS200221425 FAT4 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Anophthalmia-microphthalmia syndrome
RS200222165 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS200222327 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS200222400 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS200222411 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS200222645 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS200222843 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200222988 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200223042 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS200223232 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS200223750 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200223777 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS200224266 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS200224422 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 4
RS200224645 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200224854 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200224860 POLRMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS200224891 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS200225298 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS200225342 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS200225522 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS200225613 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS200225692 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS200225997 LCAT Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200226048 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Inborn genetic diseases
RS200226242 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200226248 PIK3CD Health Risk Conflicting classifications of pathogenicity Immunodeficiency 14, Inborn genetic diseases
RS200226466 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Inborn genetic diseases
RS200226791 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Inborn genetic diseases
RS200226880 SOX10 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, PCWH syndrome
RS200227171 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS200227562 EXOC6B Health Risk Conflicting classifications of pathogenicity —
RS200227715 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, FAT4-related disorder
RS200228117 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A
RS200228142 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, See cases
RS200228396 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS200228489 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200228767 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS200228952 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS200229473 KANK4 Health Risk Conflicting classifications of pathogenicity —
RS200230025 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS200230407 TRAIP Health Risk Pathogenic —
RS200230864 GLI3 Health Risk Likely pathogenic Pallister-Hall syndrome, Pallister-Hall syndrome
RS200230894 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS200230960 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200231105 CACNA1C;CACNA1C-AS1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS200231367 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200231626 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS200231688 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Inborn genetic diseases
RS200231889 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS200232012 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS200232299 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS200232339 KRT83 Health Risk Conflicting classifications of pathogenicity Monilethrix, Monilethrix
RS200232390 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Inborn genetic diseases
RS200232641 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS200233352 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200233406 NUMA1 Health Risk Conflicting classifications of pathogenicity —
RS200233670 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS200233856 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS200233879 ARHGAP31 Health Risk Conflicting classifications of pathogenicity ARHGAP31-related disorder, ARHGAP31-related disorder
RS200234585 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200234725 FNDC1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS200234811 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2E-related disorder
RS200235006 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200235451 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS200236475 MYCN Health Risk Conflicting classifications of pathogenicity Feingold syndrome type 1, Megalencephaly-polydactyly syndrome
RS200236654 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Joubert syndrome
RS200236750 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Death in infancy
RS200236830 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS200237098 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS200237229 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS200237369 MUC5B Health Risk Conflicting classifications of pathogenicity —
RS200237564 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS200237622 SLC25A13 Health Risk Conflicting classifications of pathogenicity Neonatal intrahepatic cholestasis due to citrin deficiency, SLC25A13-related disorder
RS200237798 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS200237973 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS200238351 MYO18B Health Risk Likely pathogenic —
RS200238482 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS200238879 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS200239036 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS200239095 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS200239096 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiomyopathy
RS200239326 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200239508 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS200239526 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS200239560 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS200239821 ENPP1 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS200239876 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200239963 PLEC Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 1, Epidermolysis bullosa simplex 5C
RS200239986 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS200240917 C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200240989 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS200241085 TCTN1 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS200241260 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS200241523 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200241873 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS200241993 MYO7A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 1B
RS200242149 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200242235 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS200242407 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
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