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
RS1886445034 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1886447945 BCL11B Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1886468876 BCL11B Health Risk Pathogenic —
RS1886475635 BCL11B Health Risk Pathogenic See cases, See cases
RS1886495923 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1886496591 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188649737 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1886499951 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1886516216 BCL11B Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with speech delay, dysmorphic facies
RS1886522103 BCL11B Health Risk Pathogenic Intellectual developmental disorder with speech delay, dysmorphic facies
RS1886529007 SUPT16H Health Risk Pathogenic —
RS188655353 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS188660364 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1886604612 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS1886606157 DDHD1 Health Risk Pathogenic —
RS188661284 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Inborn genetic diseases
RS1886625440 TSHR Health Risk Pathogenic —
RS1886630094 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1886637325 CCDC88C Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS188671846 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS188675529 THAP11 Health Risk Likely pathogenic Methylmalonic acidemia with homocystinuria, type cblX
RS188676684 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS188677757 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS1886782078 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188680791 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1886886241 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1886890531 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188694434 PRPH2 Health Risk Conflicting classifications of pathogenicity Adult-onset foveomacular vitelliform dystrophy, Cone-rod dystrophy
RS188695241 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1886976159 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188698686 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1886997142 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS188700768 SLMAP Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS188702643 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS188703146 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS188705026 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, EIF2B3-related disorder
RS1887063180 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1887064841 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188707531 FLVCR2 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS188709583 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1887100431 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS1887100980 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS188710607 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS1887113791 CALM1 Health Risk Pathogenic Long QT syndrome 14, Catecholaminergic polymorphic ventricular tachycardia 4
RS1887120112 CALM1 Health Risk Pathogenic Long QT syndrome 14, Long QT syndrome 14
RS188715129 LRTOMT Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 63, Inborn genetic diseases
RS188717259 CD36 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 10, Platelet-type bleeding disorder 10
RS188719640 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS188721921 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS188723332 FGFR3 Health Risk Conflicting classifications of pathogenicity FGFR3-related disorder, FGFR3-related disorder
RS1887277350 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1887278169 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1887280587 VRK1 Health Risk Likely pathogenic Distal spinal muscular atrophy, Distal spinal muscular atrophy
RS188728343 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS1887303860 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS188733415 FAT1 Health Risk Conflicting classifications of pathogenicity FAT1-related disorder, FAT1-related disorder
RS1887394029 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS188739853 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Inborn genetic diseases
RS188739870 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1887484564 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS1887501594 CARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 27, Combined oxidative phosphorylation defect type 27
RS1887509362 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, Rare genetic deafness
RS1887509535 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS1887576038 TTLL5 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1887579263 TTLL5 Health Risk Likely pathogenic Retinal dystrophy, Ovarian serous cystadenocarcinoma
RS1887627866 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS188762916 MAGEL2 Health Risk Conflicting classifications of pathogenicity Prader-Willi syndrome, Inborn genetic diseases
RS1887639311 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS188765166 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS188766510 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1887710442 CHD8 Health Risk Pathogenic —
RS188772875 ADGRV1 Health Risk Likely pathogenic Febrile seizures, familial
RS188772907 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, Inborn genetic diseases
RS188775667 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS1887780037 TTLL5 Health Risk Pathogenic —
RS188778681 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS188779461 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1887822022 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1887832125 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1887832871 FANCM Health Risk Likely pathogenic —
RS188789382 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS188793584 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS1887960167 CHD8 Health Risk Pathogenic —
RS1887974151 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS188798140 WNT5A Health Risk Conflicting classifications of pathogenicity Autosomal dominant Robinow syndrome 1, Familial cancer of breast
RS1888018806 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS188802138 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS1888023074 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1888033166 CHD8 Health Risk Pathogenic —
RS1888042696 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCM-related disorder
RS188804693 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS188807564 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS1888105256 CHD8 Health Risk Pathogenic —
RS1888107694 CHD8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1888108039 CHD8 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1888108124 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1888129073 CHD8 Health Risk Pathogenic Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly
RS188814235 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS188817098 TCTN1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS188821606 GEMIN4 Health Risk Conflicting classifications of pathogenicity —
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