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
RS1337235778 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1337256944 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1337287633 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1337293997 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1337305891 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS1337343400 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1337345059 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1337346956 IGHMBP2 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS1337363590 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1337364058 MERTK Health Risk Pathogenic —
RS1337377726 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1337382297 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, POLR3B-related disorder
RS1337409061 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Cardiovascular phenotype
RS1337417322 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1337420489 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1337473924 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1337509224 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Inborn genetic diseases
RS1337518083 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1337524033 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1337528878 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, Leukodystrophy
RS1337554479 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS1337556254 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS1337559480 C3 Health Risk Pathogenic/Likely pathogenic Complement component 3 deficiency, Age related macular degeneration 9
RS1337598962 AKR1D1 Health Risk Likely pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS1337628147 PGAP1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Intellectual disability
RS1337636757 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1337650827 CABP2 Health Risk Likely pathogenic —
RS1337668635 WDR73 Health Risk Pathogenic —
RS1337669269 AQP2 Health Risk Pathogenic Diabetes insipidus, nephrogenic
RS1337679118 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1337692923 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1337693743 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS1337695234 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1337698225 DRAM2 Health Risk Pathogenic —
RS1337704280 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS1337709383 SLC52A2 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 2, Brown-Vialetto-van Laere syndrome 2
RS1337721316 OTOF Health Risk Pathogenic —
RS1337742915 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1337751426 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1337758154 ATXN7 Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS1337761156 STIM1 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
RS1337761270 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1337771339 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1337792814 PABPN1 Health Risk Pathogenic Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy 1
RS1337798545 HACE1 Health Risk Pathogenic Spastic paraplegia-severe developmental delay-epilepsy syndrome, Spastic paraplegia-severe developmental delay-epilepsy syndrome
RS1337798741 ADGRV1 Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS1337804475 AGBL5 Health Risk Likely pathogenic —
RS1337840598 USH1G Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS1337865963 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Neurodevelopmental disorder with hypotonia
RS1337874441 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS1337890012 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS1337893429 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1337897299 CRYGD Health Risk Pathogenic Cataract 4 multiple types, Aculeiform cataract
RS1337899996 EXOSC9 Health Risk Pathogenic —
RS1337918797 PJVK Health Risk Likely pathogenic —
RS1337921591 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1337929727 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1337956293 PAX5 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1337995343 CTSA Health Risk Pathogenic GALACTOSIALIDOSIS, LATE INFANTILE
RS1338018512 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1338023969 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1338038953 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1338061432 ERCC6 Health Risk Pathogenic Cockayne spectrum with or without cerebrooculofacioskeletal syndrome, Cockayne spectrum with or without cerebrooculofacioskeletal syndrome
RS1338074315 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1338078012 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1338081758 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, ADGRV1-related disorder
RS1338085924 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1338125377 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1338132238 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS1338132991 TNFRSF11A Health Risk Pathogenic —
RS1338137742 COQ8A Health Risk Likely pathogenic —
RS1338138752 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1338169194 USH2A Health Risk Pathogenic Usher syndrome, Retinitis pigmentosa 39
RS1338177551 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1338194519 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS1338200771 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1338201926 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1338210490 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1338219387 ABCA3 Health Risk Pathogenic —
RS1338220455 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS1338226967 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1338231889 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1338239866 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1338284039 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 4
RS1338289178 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1338331744 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1338343514 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1338362749 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Bloom syndrome
RS1338364389 CTNS Health Risk Pathogenic Ocular cystinosis, Juvenile nephropathic cystinosis
RS1338396929 RS1 Health Risk Conflicting classifications of pathogenicity —
RS1338433423 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1338446830 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1338469029 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS1338479649 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1338486619 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1338490917 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS1338491963 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1338494405 AK1 Health Risk Likely pathogenic —
RS1338495481 HSPG2 Health Risk Pathogenic —
RS1338508417 COL4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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