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
RS782465804 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782467790 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS782467999 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782468194 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782468518 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782469016 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Christianson syndrome
RS782469479 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782469665 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782470471 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype
RS782471965 TSPEAR Health Risk Conflicting classifications of pathogenicity —
RS782472762 POLG2 Health Risk Pathogenic —
RS782472825 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Inborn genetic diseases
RS782473084 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782473277 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782473762 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782474570 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS782475413 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782475540 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782477178 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782477344 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS782477424 GDI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782477734 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782479632 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS782479828 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782480281 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS782480845 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Congenital defect of folate absorption
RS782481491 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS782482207 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782483245 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS782483563 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Colorectal cancer
RS782483583 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Inborn genetic diseases
RS782484337 ATP6V1B1 Health Risk Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782484757 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782485083 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782487174 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782487723 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS782488330 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS782488388 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS782488487 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS782490288 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS782490558 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS782491194 AFF2 Health Risk Likely pathogenic —
RS782491733 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782491901 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS782492315 RBP3 Health Risk Pathogenic —
RS782492611 TUBB8 Health Risk Likely pathogenic Oocyte maturation defect 2, Oocyte maturation defect 2
RS782493042 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Inborn genetic diseases
RS782493762 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS782493861 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782493929 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782494815 MDH2 Health Risk Pathogenic —
RS782495086 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS782495199 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS782495413 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782495669 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS78249575 SMAD9 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS782496059 PACS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782497028 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782497496 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS782498015 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782498857 GPAA1 Health Risk Pathogenic/Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Inborn genetic diseases
RS782499215 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS782499746 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS782499772 PLEC Health Risk Likely pathogenic —
RS782500012 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782500780 ATP6V1B1 Health Risk Pathogenic/Likely pathogenic Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS782500981 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS782501125 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS782501584 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782501672 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS782502175 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782502903 C12orf57 Health Risk Pathogenic Temtamy syndrome, Temtamy syndrome
RS782503325 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782504358 MYO7A Health Risk Likely pathogenic —
RS782504409 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782505393 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS782505421 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Inborn genetic diseases
RS782505601 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS782506652 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS782507150 CD79A Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 3, autosomal recessive
RS782507902 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS782508808 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, ATRX-related disorder
RS782509013 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS782509393 ABCD1 Health Risk Likely pathogenic Adrenoleukodystrophy, Adrenoleukodystrophy
RS782509657 SURF1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS782509734 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782509792 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS782510081 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782510443 F8 Health Risk Conflicting classifications of pathogenicity —
RS78251065 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782511247 TSPEAR Health Risk Pathogenic —
RS782511378 FOXP3 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus type 1, Diabetes mellitus type 1
RS782512578 TONSL Health Risk Pathogenic —
RS782513203 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782513533 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782513930 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782514164 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS782514180 HYOU1 Health Risk Conflicting classifications of pathogenicity HYOU1-related disorder, HYOU1-related disorder
RS782514319 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS78251482 NIN Health Risk Conflicting classifications of pathogenicity —
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