SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS111442547 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS111445591 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS111446464 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS111447204 CLCC1 Health Risk Conflicting classifications of pathogenicity —
RS111448395 CRX Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS111448623 KRT5 Health Risk Likely pathogenic —
RS111450489 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS111450526 BCAP31 Health Risk Conflicting classifications of pathogenicity BCAP31-related disorder, BCAP31-related disorder
RS111451119 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS111451684 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS111452612 FLNC Health Risk Likely pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS111459222 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS111460426 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS111460784 TFAP2A Health Risk Likely pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS111463684 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, LYST-related disorder
RS111464645 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS111466480 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS11146842 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Adrenoleukodystrophy
RS111471193 ENG Health Risk Likely pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS111475461 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS111476033 CYP4B1 Health Risk Conflicting classifications of pathogenicity —
RS111476645 FAN1 Health Risk Conflicting classifications of pathogenicity Karyomegalic interstitial nephritis, FAN1-related disorder
RS111477195 FLNC Health Risk Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS111481152 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS111481402 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS111481416 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS111481417 FLNA Health Risk Pathogenic —
RS111482608 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS111486860 MGAT2 Health Risk Conflicting classifications of pathogenicity MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
RS111488441 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS111493987 KMT2C Health Risk Conflicting classifications of pathogenicity Autism, susceptiblity to
RS111496285 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS111502197 INSR Health Risk Conflicting classifications of pathogenicity Leprechaunism syndrome, Insulin-resistant diabetes mellitus AND acanthosis nigricans
RS111502670 FGB Health Risk Likely pathogenic Familial dysfibrinogenemia, Familial dysfibrinogenemia
RS111502708 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Inborn genetic diseases
RS111504036 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS111505097 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS111507743 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS111511993 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS111513627 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS111514883 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS111515657 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DCHS1-related disorder
RS111516546 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS111517471 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS111517514 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS111520454 MLC1 Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS111521887 TOLLIP Health Risk Uncertain significance; association Interstitial lung disease 2, Chronic obstructive pulmonary disease
RS111523341 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS111525622 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS111530469 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS111533078 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS111534474 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS111534978 NHS Health Risk Pathogenic Developmental cataract, Developmental cataract
RS111535594 TSEN2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
RS11153718 SLC35F1 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS111537259 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS111537544 LRTOMT Health Risk Conflicting classifications of pathogenicity —
RS111539978 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS111540787 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS111541229 GNAS Health Risk Likely pathogenic —
RS111541487 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS111541535 COX10 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex IV deficiency
RS111544757 GYG2 Health Risk Conflicting classifications of pathogenicity —
RS111547156 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related disorder
RS111554140 GATA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital heart defects
RS111554790 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS111556571 TRAPPC12 Health Risk Conflicting classifications of pathogenicity —
RS111558823 HSPG2 Health Risk Conflicting classifications of pathogenicity HSPG2-related disorder, HSPG2-related disorder
RS111567071 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS111568726 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS111569862 LMNA Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS111570247 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cardiovascular phenotype
RS111571762 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS111574749 DNAH9 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS111576740 TERT Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS111580456 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Fanconi anemia complementation group J
RS111581053 GJA1 Health Risk Conflicting classifications of pathogenicity Syndactyly type 3, Oculodentodigital dysplasia
RS111583187 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS111583276 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS111584250 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS111584802 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS111588143 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS111588631 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111588752 ADSS1 Health Risk Conflicting classifications of pathogenicity Myopathy, distal
RS111589746 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS111592339 RPS19 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS111594467 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta
RS111595704 SMARCB1 Health Risk Likely pathogenic —
RS111595742 C3 Health Risk Likely pathogenic C3 DEFICIENCY, Complement component 3 deficiency
RS111597150 VWF Health Risk Pathogenic Abnormality of coagulation, von Willebrand disease type 1
RS111604463 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS111604607 FBXO7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Parkinsonian-pyramidal syndrome
RS111606207 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS111606296 LEMD2 Health Risk Conflicting classifications of pathogenicity LEMD2-related disorder, LEMD2-related disorder
RS111607386 COL17A1 Health Risk Likely pathogenic —
RS111608902 TRMU Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Inborn genetic diseases
RS111610925 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS111618622 TNK2 Health Risk Conflicting classifications of pathogenicity —
RS111619594 TMEM67 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 14, modifier of
RS111619940 DLD Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase complex deficiency, Leigh syndrome
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