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
RS782036206 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS782036233 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS782036327 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS782037394 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782038506 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS782038680 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS782038889 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, Inborn genetic diseases
RS782039050 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS782040592 PLEC Health Risk Likely pathogenic —
RS782040815 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782041940 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS782042350 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782042817 SPIDR Health Risk Pathogenic Ovarian dysgenesis 9, Ovarian dysgenesis 9
RS782043699 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782044154 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Inborn genetic diseases
RS782044928 SLC39A4 Health Risk Pathogenic —
RS782045368 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782047045 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782047787 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS782048416 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782048786 MDH2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 51
RS782048792 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782049232 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS782049247 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782051102 GATA5 Health Risk Pathogenic Congenital heart defects, multiple types
RS782051708 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS782052307 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782052487 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782052857 CHAMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782052865 ATP6V1B1 Health Risk Pathogenic —
RS782054970 GJA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 1 multiple types
RS782056386 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Hypophosphatemic rickets
RS782056388 TSPEAR Health Risk Pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS782057287 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782057378 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS782057759 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS782058125 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782058451 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12
RS782058486 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782059779 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS782060809 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Inborn genetic diseases
RS782061187 SURF1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mitochondrial complex IV deficiency
RS782061626 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS782061657 CLIC2 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome, X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
RS782062618 PHKA1 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS782062633 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS782063260 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS782063761 MYO7A Health Risk Likely pathogenic Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2
RS782063907 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782064437 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782065862 PORCN Health Risk Likely pathogenic —
RS782066542 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782067034 CRYAB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1II
RS782067046 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782067087 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782067532 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782069549 CACNA1F Health Risk Conflicting classifications of pathogenicity —
RS782070173 DLAT Health Risk Likely pathogenic —
RS782070742 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782071629 CLCN5 Health Risk Conflicting classifications of pathogenicity —
RS782072494 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Inborn genetic diseases
RS782072593 SLITRK2 Health Risk Likely pathogenic Intellectual disability, Intellectual developmental disorder
RS782072827 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782073135 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS782073490 FKBP10 Health Risk Conflicting classifications of pathogenicity —
RS782073897 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782074040 CACNA1F Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS782074069 SLC6A8 Health Risk Pathogenic/Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS782075466 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782076366 KDM5C Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS782076415 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS782076866 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS782076879 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782077721 MYO7A Health Risk Pathogenic Inborn genetic diseases, Usher syndrome type 1
RS782079908 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782080111 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS782080138 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS782080260 BCAP31 Health Risk Conflicting classifications of pathogenicity —
RS782080475 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782082118 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS782082407 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782083663 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782083931 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS782084367 TSPEAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS782084496 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, Inborn genetic diseases
RS782084497 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782085584 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS782085638 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS782085654 ADAMTS10 Health Risk Conflicting classifications of pathogenicity ADAMTS10-related disorder, ADAMTS10-related disorder
RS782085661 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782085946 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782086243 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Inborn genetic diseases
RS782087009 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS782087438 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS782088056 TSPEAR Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS782088427 CACNA1F Health Risk Likely pathogenic —
RS782088671 PRPF3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782088695 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS782090266 FLNA Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Melnick-Needles syndrome
RS782090689 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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