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
RS782321685 TSPEAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782322130 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782322505 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS782323037 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782323295 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS782324453 FGF3 Health Risk Conflicting classifications of pathogenicity Deafness with labyrinthine aplasia, microtia
RS782325047 RBMXL3 Health Risk Conflicting classifications of pathogenicity —
RS782325167 FMR1 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS782325268 BCAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782325371 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782325733 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782325962 BMP15 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS782326194 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Inborn genetic diseases
RS782326556 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782327744 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782328918 PLXNB3 Health Risk Conflicting classifications of pathogenicity —
RS782329150 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Inborn genetic diseases
RS782329429 RPS19 Health Risk Likely pathogenic —
RS782329763 SLC25A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782329790 ACER3 Health Risk Likely pathogenic Alkaline ceramidase 3 deficiency, Alkaline ceramidase 3 deficiency
RS782329833 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, ATR-X-related syndrome
RS782330004 RBP3 Health Risk Pathogenic —
RS782330306 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS782330533 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782330959 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782331362 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS782331462 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS782331682 OPLAH Health Risk Pathogenic/Likely pathogenic 5-Oxoprolinase deficiency, 5-Oxoprolinase deficiency
RS782331927 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782332252 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS782332277 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782333124 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS782334088 ABCD1 Health Risk Pathogenic Adrenoleukodystrophy, Inborn genetic diseases
RS782335744 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS782335776 C12orf57 Health Risk Pathogenic Temtamy syndrome, Temtamy syndrome
RS782336056 POLG2 Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS782336856 POR Health Risk Pathogenic/Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
RS782337540 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782338346 TSPEAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS782338563 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782338603 BTK Health Risk Conflicting classifications of pathogenicity Autosomal recessive agammaglobulinemia 1, X-linked agammaglobulinemia with growth hormone deficiency
RS782338659 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782339376 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS782339984 GPAA1 Health Risk Conflicting classifications of pathogenicity Glycosylphosphatidylinositol biosynthesis defect 15, See cases
RS782340858 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782340868 SLC35A2 Health Risk Conflicting classifications of pathogenicity SLC35A2-congenital disorder of glycosylation, SLC35A2-congenital disorder of glycosylation
RS782341043 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782341251 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782341732 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782342783 PEX11B Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 14B, Peroxisome biogenesis disorder 14B
RS782343026 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
RS782343800 DKC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Dyskeratosis congenita
RS782344765 RP2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 2, Retinal dystrophy
RS782345141 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
RS782345472 SLC52A2 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 2, Inborn genetic diseases
RS782346811 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS782347270 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS782347729 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782348242 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS782349178 SURF1 Health Risk Pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS782349298 DGAT1 Health Risk Pathogenic —
RS782350068 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782350159 POLG2 Health Risk Conflicting classifications of pathogenicity —
RS782350228 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS782351877 FLNA Health Risk Conflicting classifications of pathogenicity Intellectual disability, Heterotopia
RS782351974 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782352193 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782352724 TSPEAR Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS782352802 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS782354655 HCFC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Methylmalonic acidemia with homocystinuria
RS782355048 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782355058 HYAL1 Health Risk Conflicting classifications of pathogenicity Deficiency of hyaluronoglucosaminidase, HYAL1-related disorder
RS782355343 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS782356520 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782357237 SF3B4 Health Risk Conflicting classifications of pathogenicity Nager syndrome, Nager syndrome
RS782357529 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS782358007 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782359362 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS782359458 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782359700 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782359762 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782360263 TSPEAR Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 98, Ectodermal dysplasia 14
RS782360331 PQBP1 Health Risk Conflicting classifications of pathogenicity —
RS782360415 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS782360547 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782361186 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS782361600 CLCN5 Health Risk Pathogenic —
RS782361954 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782362194 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS782362725 CACNA1F Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS782364202 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS782365356 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS782365743 PEX11B Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 14B, PEX11B-related disorder
RS782366951 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782367133 KDM5C Health Risk Conflicting classifications of pathogenicity Smith-Magenis Syndrome-like, Spastic paraplegia
RS782367211 FMR1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS782367505 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS782367962 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782368761 LIMK1 Health Risk Likely pathogenic See cases, See cases
RS782369854 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
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