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
RS782753385 ORAI1 Health Risk Likely pathogenic Combined immunodeficiency due to ORAI1 deficiency, Myopathy
RS782754461 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782754619 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782755390 ELN Health Risk Likely pathogenic —
RS782756146 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS782756293 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder
RS782756337 MDH2 Health Risk Conflicting classifications of pathogenicity —
RS782756404 ATP2B3 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS782756433 CYBB Health Risk Pathogenic Granulomatous disease, chronic
RS782757170 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782757364 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS782757975 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782758062 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782758177 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782759179 SLC9A6 Health Risk Conflicting classifications of pathogenicity Christianson syndrome, Intellectual disability
RS782759642 MDH2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS782760033 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, ABCD1-related disorder
RS782760045 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782760805 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS782761074 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS782761341 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782761381 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS782763245 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS782763816 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS782764609 G6PD Health Risk Conflicting classifications of pathogenicity G6PD deficiency, G6PD deficiency
RS782764685 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS782764762 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782764813 EMD Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 1, X-linked
RS782764977 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782765195 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Heterotopia
RS782765314 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS782766118 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782766351 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782767225 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS782767733 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782768127 GPAA1 Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS782768362 EMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
RS782768495 CHAMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782770209 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS782770335 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782770862 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Lung cancer
RS782771039 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782771682 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS782772316 HUWE1 Health Risk Conflicting classifications of pathogenicity —
RS782772998 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782773387 GATA5 Health Risk Conflicting classifications of pathogenicity —
RS782773400 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS782774182 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782774219 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Menkes kinky-hair syndrome
RS782774918 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS782775255 RP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782775362 ARCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782775675 PACS2 Health Risk Conflicting classifications of pathogenicity —
RS782775735 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome
RS782776511 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782777693 ARCN1 Health Risk Conflicting classifications of pathogenicity Short stature, rhizomelic
RS78277780 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS782778928 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782779421 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, MASA syndrome
RS782779717 AFF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782779958 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS782780250 KDM5C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS782780394 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS782781078 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS782781187 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Infantile-onset X-linked spinal muscular atrophy
RS782781776 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS782782569 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782782722 HJV Health Risk Pathogenic —
RS782784989 C12orf57 Health Risk Pathogenic Temtamy syndrome, Temtamy syndrome
RS782785569 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome
RS782785654 TMLHE Health Risk Likely pathogenic Cerebellar vermis hypoplasia, Corpus callosum
RS782786459 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1JJ
RS782787126 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS782787324 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS782788214 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782788600 SURF1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4K, Mitochondrial complex IV deficiency
RS782789434 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS782789538 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS782790022 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS782790041 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS782790256 GATA1 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS782790782 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS782790983 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, CPA1-related disorder
RS782791376 ELN Health Risk Conflicting classifications of pathogenicity Williams syndrome, Supravalvar aortic stenosis
RS782791907 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782792216 PQBP1 Health Risk Conflicting classifications of pathogenicity Renpenning syndrome, Renpenning syndrome
RS782792256 LAGE3 Health Risk Conflicting classifications of pathogenicity —
RS782792356 TMLHE Health Risk Conflicting classifications of pathogenicity Epsilon-trimethyllysine hydroxylase deficiency, Thyroid cancer
RS782793542 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS782794260 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Thyroid cancer
RS782794495 BGN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS782795716 PGK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS782795832 GPAA1 Health Risk Pathogenic —
RS782796080 GDF2 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS782796398 UBA1 Health Risk Conflicting classifications of pathogenicity Infantile-onset X-linked spinal muscular atrophy, Inborn genetic diseases
RS782796942 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS782797814 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS782799150 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked distal spinal muscular atrophy type 3
RS782799573 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS782799824 TSPEAR Health Risk Likely pathogenic —
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