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
RS1280099731 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1280101266 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1280110907 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1280123243 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1280126526 COL11A2 Health Risk Likely pathogenic COL11A2-related disorder, COL11A2-related disorder
RS1280128851 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, ELN-related disorder
RS1280128886 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1280130060 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1280131174 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Nonpapillary renal cell carcinoma
RS1280134766 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1280148041 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS12801620 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1280163668 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1280163869 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS1280185461 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1280192131 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1280211937 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1280227892 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS1280230808 NPHP3 Health Risk Likely pathogenic Nephronophthisis, Renal-hepatic-pancreatic dysplasia 1
RS1280237734 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1280238814 IQCB1 Health Risk Pathogenic Nephronophthisis, Retinal dystrophy
RS1280253490 HPS3 Health Risk Likely pathogenic —
RS1280272876 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS1280273701 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1280277994 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1280299073 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS1280317566 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1280320763 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1280341996 ILDR1 Health Risk Pathogenic —
RS1280344503 IMPDH1 Health Risk Likely pathogenic —
RS1280346095 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS1280347803 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia
RS1280398041 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS1280400930 GLB1 Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1280419101 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1280425167 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 1, See cases
RS1280449769 LZTR1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1280451927 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1280466701 OTOGL Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS1280482569 DOCK6 Health Risk Likely pathogenic Inborn genetic diseases, Adams-Oliver syndrome 2
RS1280487930 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1280496169 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS1280511914 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1280580731 RTTN Health Risk Pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1280583223 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1280592781 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1280648051 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1280689930 PDZD7 Health Risk Pathogenic/Likely pathogenic —
RS1280721587 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1280734884 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1280735521 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS1280756117 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP1-related disorder
RS1280760946 BLTP1 Health Risk Likely pathogenic BLTP1-related disorder, BLTP1-related disorder
RS1280772093 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS1280774223 MYO7A Health Risk Likely pathogenic —
RS1280809356 COL18A1 Health Risk Pathogenic —
RS1280810181 BCS1L Health Risk Pathogenic/Likely pathogenic GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
RS1280838951 ZNF292 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1280845604 DEGS1 Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS1280851724 MYH2 Health Risk Likely pathogenic Myopathy, proximal
RS1280917011 ABCC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1280925919 CYP4V2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1280930048 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1280934208 SPR Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1280935153 MIB1 Health Risk Likely pathogenic —
RS1280971849 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Muir-Torré syndrome
RS1280976864 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1280981405 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS1280991447 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1281013806 ALMS1 Health Risk Pathogenic Cardiovascular phenotype, Alstrom syndrome
RS1281024431 ASAH1 Health Risk Pathogenic Farber lipogranulomatosis, ASAH1-related disorders
RS1281034886 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1281036710 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1281075870 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1281085210 CNGB3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1281090187 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS1281095503 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 28, Retinitis pigmentosa 28
RS1281131043 RNU4ATAC Health Risk Pathogenic Lowry-Wood syndrome, Lowry-Wood syndrome
RS1281137823 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1281153557 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1281159761 XDH Health Risk Likely pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS1281163225 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1281166433 NR2F1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1281179187 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1281181811 AHI1 Health Risk Likely pathogenic See cases, See cases
RS1281214893 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1281256224 ASCC1 Health Risk Pathogenic Inborn genetic diseases, Spinal muscular atrophy with congenital bone fractures 2
RS1281257509 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1281259093 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS1281267586 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1281270349 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1281274698 AR Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1281276965 NFU1 Health Risk Likely pathogenic Multiple mitochondrial dysfunctions syndrome 1, NFU1-related disorder
RS1281277166 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS1281282603 PLA2G6 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1281303824 TUBGCP4 Health Risk Pathogenic —
RS1281311713 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1281329703 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS1281334523 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS1281337925 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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