SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS781938303 C1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781938466 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS781938740 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS781939301 EBP Health Risk Conflicting classifications of pathogenicity —
RS781939560 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS781939580 VMA12 Health Risk Conflicting classifications of pathogenicity TMEM199-related disorder, TMEM199-related disorder
RS781939614 PEX11B Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
RS781940286 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS781941648 RP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS78194216 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS781942618 DGAT1 Health Risk Conflicting classifications of pathogenicity Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS781942628 AVPR2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS781943786 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS781943956 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS781944012 C1S Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, periodontal type 2
RS781945281 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS781945326 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS781945467 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS781945750 ACTG1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS781946435 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS781946801 POR Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia
RS781946802 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781947413 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS78194762 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Inborn genetic diseases
RS781947839 F8 Health Risk Likely pathogenic —
RS781947914 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS781948153 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS781948229 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS781948238 SURF1 Health Risk Pathogenic Leigh syndrome, Charcot-Marie-Tooth disease type 4K
RS781948493 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Dent disease type 1
RS781948606 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS781948754 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS781949446 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS781949456 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS781949460 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS781949585 ODAD4 Health Risk Pathogenic Primary ciliary dyskinesia 35, Primary ciliary dyskinesia 35
RS781949612 TRRAP Health Risk Conflicting classifications of pathogenicity —
RS781949645 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS781949882 MMP13 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia, Missouri type
RS781950164 AVPR2 Health Risk Pathogenic/Likely pathogenic Nephrogenic syndrome of inappropriate antidiuresis, Diabetes insipidus
RS781951909 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS781952393 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS781953399 ACTG1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS781954439 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS781954986 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS781955237 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS781955447 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS781956012 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781956288 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS781957465 NOTCH2 Health Risk Likely pathogenic —
RS781958107 MYO7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781959191 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781959472 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS781960031 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS78196007 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS781960727 CACNA1F Health Risk Pathogenic CACNA1F-related disorder, CACNA1F-related disorder
RS781961617 ATP6V1B1 Health Risk Likely pathogenic —
RS781962577 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781962741 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781963804 ELN Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 1
RS781963831 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS781964005 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS781964494 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS781964622 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS781965392 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781966264 MMP13 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Metaphyseal chondrodysplasia
RS781966767 CCN6 Health Risk Conflicting classifications of pathogenicity Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS781967767 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS781967825 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS781968399 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked distal spinal muscular atrophy type 3
RS781968415 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS781969081 ATP6V1B1 Health Risk Pathogenic Inborn genetic diseases, Renal tubular acidosis with progressive nerve deafness
RS781969431 TAFAZZIN Health Risk Pathogenic —
RS781970079 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781970260 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS781970274 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS781970327 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781970658 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS781970988 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS781971438 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, MECP2-related disorder
RS781971569 ORAI1 Health Risk Conflicting classifications of pathogenicity Myopathy, tubular aggregate
RS781972092 PLXNA3 Health Risk Conflicting classifications of pathogenicity —
RS781972193 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS781972464 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS781974501 SLC25A1 Health Risk Pathogenic 2-hydroxyglutaric aciduria, Myasthenic syndrome
RS781974681 HYAL1 Health Risk Pathogenic/Likely pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS781975172 SLC39A4 Health Risk Pathogenic —
RS781975437 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS781976719 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS781976795 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS781977497 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS781977956 OPLAH Health Risk Pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS781978013 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS781978167 TSPEAR Health Risk Pathogenic —
RS781978699 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, See cases
RS781978743 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS781980999 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS781981286 RP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781982199 KMT2A Health Risk Likely pathogenic —
RS78198234 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease perinatal lethal, Gaucher disease
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