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
RS1285004802 PCYT1A Health Risk Pathogenic Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
RS1285012780 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1285014916 RTEL1 Health Risk Pathogenic/Likely pathogenic RTEL1-related disorder, Pulmonary fibrosis and/or bone marrow failure
RS1285037788 HMBS Health Risk Pathogenic —
RS1285049551 SLC39A4 Health Risk Pathogenic/Likely pathogenic Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS1285073212 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1285082850 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS1285121531 COL18A1 Health Risk Pathogenic —
RS1285132774 SDHA Health Risk Likely pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS1285151453 ASPM Health Risk Pathogenic —
RS1285168531 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1285175554 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS1285176283 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS1285179667 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1285192047 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS1285192900 ANO10 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1285201633 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1285225437 MFF Health Risk Pathogenic Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Encephalopathy due to defective mitochondrial and peroxisomal fission 2
RS1285239018 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, HNF1B-related disorder
RS1285249923 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1285270306 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS1285287334 DNAH5 Health Risk Pathogenic —
RS1285313333 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1285317289 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1285329067 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1285329277 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1285334952 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1285335824 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS1285346388 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1285349002 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Nephronophthisis
RS1285351867 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1285358729 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1285381948 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1285387273 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1285387383 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1285412752 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1285416231 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS1285425883 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1285427476 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1285431486 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1285457241 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1285458218 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1285460528 PIK3CD Health Risk Pathogenic Immunodeficiency 14, Immunodeficiency 14
RS1285477390 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS1285501658 AGBL5 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1285547765 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1285567657 ABHD12 Health Risk Likely pathogenic —
RS1285576172 COL4A3 Health Risk Likely pathogenic —
RS1285584068 MIR6795;NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS1285592726 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS1285597974 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1285602098 LARP7 Health Risk Pathogenic —
RS1285618109 GABRG2 Health Risk Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1285624591 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS1285636957 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1285666422 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1285670016 COL17A1 Health Risk Pathogenic —
RS1285705042 GBA1 Health Risk Likely pathogenic Gaucher disease type II, Gaucher disease type II
RS1285705072 CHRND Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS1285714005 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1285731171 NBEAL2 Health Risk Pathogenic Thrombocytopenia, Abnormal bleeding
RS1285743818 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1285755368 COL7A1 Health Risk Likely pathogenic —
RS1285760809 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1285773934 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1285775586 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1285778253 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1285783476 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1285784670 TRIM37 Health Risk Pathogenic/Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS1285789744 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS1285800435 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1285830482 TFAM Health Risk Conflicting classifications of pathogenicity —
RS1285837389 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS1285853856 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1285856108 FRRS1L Health Risk Pathogenic Developmental and epileptic encephalopathy, 37
RS1285862035 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1285871027 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1285877841 APOA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1285884266 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1285918522 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1285923468 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS1285925896 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS1285930895 MOCS1 Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS1285938402 POLE Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1285947952 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1285966014 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS1285969385 LAMC3 Health Risk Likely pathogenic —
RS1285982890 POLG2 Health Risk Pathogenic —
RS1285984652 CPLANE1 Health Risk Pathogenic —
RS1286009187 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1286011012 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1286023795 TGM1 Health Risk Pathogenic —
RS1286036654 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1286042594 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Heritable Thoracic Aortic Disease
RS1286072529 ANO10 Health Risk Pathogenic —
RS1286076100 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS1286076992 AGBL5 Health Risk Pathogenic —
RS1286080173 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1286082290 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS1286147184 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
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