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
RS782186293 MYO7A Health Risk Likely pathogenic —
RS782187026 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS782187551 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782187697 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782188805 FSCN2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS782189345 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782189881 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782189938 TONSL Health Risk Pathogenic —
RS782190081 FLNA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Oto-palato-digital syndrome
RS782190396 RP2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782190413 SURF1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4K, Leigh syndrome
RS782190610 HYAL1 Health Risk Pathogenic Deficiency of hyaluronoglucosaminidase, Deficiency of hyaluronoglucosaminidase
RS782190885 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782191011 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS782191163 HNRNPH2 Health Risk Pathogenic Intellectual disability, X-linked
RS782191345 CLCN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782191490 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS782192283 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS78219242 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS782192787 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
RS782193139 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782193428 F8 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease
RS782193445 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782195010 RP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782195029 GPAA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782195195 WAS Health Risk Conflicting classifications of pathogenicity X-linked severe congenital neutropenia, Thrombocytopenia 1
RS782195445 TAFAZZIN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS782196006 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782196212 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS782196306 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782197072 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS782197638 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS782198012 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1B
RS782198269 SLC39A4 Health Risk Likely pathogenic —
RS782198489 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782198570 F8 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, See cases
RS782199122 GJA8 Health Risk Likely pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS782199472 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782199865 BGN Health Risk Likely pathogenic X-linked spondyloepimetaphyseal dysplasia, X-linked spondyloepimetaphyseal dysplasia
RS782200316 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS782201621 AVPR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782201645 HMBS Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS782201765 TONSL Health Risk Pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS782201984 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS782202249 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782202364 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS782202675 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS782203227 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782204977 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS782205676 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782206262 ARHGEF9 Health Risk Pathogenic ARHGEF9-related disorder, Developmental and epileptic encephalopathy
RS782206415 SLC6A8 Health Risk Conflicting classifications of pathogenicity Creatine transporter deficiency, Inborn genetic diseases
RS782206765 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782207752 PPP1R3F Health Risk Conflicting classifications of pathogenicity —
RS782208453 GATA1 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS782210275 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782210626 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782210632 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782210973 SHANK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782211863 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782212142 CD4 Health Risk Pathogenic Immunodeficiency 79, Immunodeficiency 79
RS782213742 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782214291 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS782214884 SURF1 Health Risk Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS782216341 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782216438 FKBP10 Health Risk Conflicting classifications of pathogenicity —
RS782216573 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782216683 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782216863 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS782217375 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS782217473 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS782218608 COX7B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782220208 GPAA1 Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS782220219 CCN6 Health Risk Pathogenic —
RS782220332 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782220518 DGAT1 Health Risk Pathogenic —
RS782221205 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782221357 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782222671 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782222813 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782222974 EMD Health Risk Pathogenic —
RS782223025 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS782224455 WAS Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS782224965 TSPEAR Health Risk Pathogenic/Likely pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
RS782225633 DLAT Health Risk Pathogenic Pyruvate dehydrogenase E2 deficiency, Pyruvate dehydrogenase E2 deficiency
RS782225670 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782225994 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS782226750 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Inborn genetic diseases
RS782227221 RBM10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782227374 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS782227665 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases
RS782229302 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Alternating hemiplegia of childhood 2
RS782230619 CPSF1 Health Risk Pathogenic —
RS782232273 GPAA1 Health Risk Pathogenic —
RS782232632 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782233102 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782233195 NSDHL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782233609 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782233629 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS782234241 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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