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
RS1244823020 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1244824806 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS1244829942 TUBGCP6 Health Risk Pathogenic —
RS1244833672 TRMT1 Health Risk Likely pathogenic —
RS1244840759 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1244859914 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1244866304 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1244884053 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1244889985 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS1244897846 CDH23 Health Risk Likely pathogenic —
RS1244919509 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1244929903 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS1244937877 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1244945859 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1244948993 CSGALNACT1 Health Risk Pathogenic —
RS1244949795 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS1244950045 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1244967438 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1244992429 EPG5 Health Risk Likely pathogenic Vici syndrome, Vici syndrome
RS1245002528 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1245007527 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1245016196 PRUNE1 Health Risk Likely pathogenic —
RS1245021867 ASPM Health Risk Pathogenic Intellectual disability, Microcephaly 5
RS1245041497 TET2 Health Risk Pathogenic Angioimmunoblastic T-cell lymphoma, Angioimmunoblastic T-cell lymphoma
RS1245060732 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS1245106080 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1245121527 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1245141384 CLCN2 Health Risk Pathogenic Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS1245154926 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1245161888 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1245163004 ESCO2 Health Risk Pathogenic —
RS1245168537 SERAC1 Health Risk Likely pathogenic SERAC1-related disorder, SERAC1-related disorder
RS1245182875 BLTP1 Health Risk Pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1245187485 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1245231987 CTSK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1245232070 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1245262159 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Congenital bile acid synthesis defect 3
RS1245290762 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS1245304444 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS1245310422 AAAS Health Risk Likely pathogenic —
RS1245318068 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1245328322 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1245329669 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS1245338270 MYO15A Health Risk Pathogenic Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 3
RS1245352495 TNR Health Risk Likely pathogenic Gastric cancer, Gastric cancer
RS1245368879 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1245369612 PPOX Health Risk Pathogenic —
RS1245372794 SMCHD1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1245373037 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS1245381241 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial standstill 1, Atrial fibrillation
RS1245385099 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1245411910 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS1245412108 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS1245431420 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1245464556 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1245472904 ABCB4 Health Risk Pathogenic/Likely pathogenic ABCB4-related disorder, ABCB4-related disorder
RS1245476075 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1245480392 MYORG Health Risk Likely pathogenic —
RS1245497484 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1245499278 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1245503127 MFRP Health Risk Likely pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1245504167 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1245520779 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1245531016 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS1245531460 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1245543262 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1245585990 FANCL Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1245586204 AFG3L2 Health Risk Pathogenic —
RS1245604423 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1245610941 SLC1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1245618829 IKZF1 Health Risk Conflicting classifications of pathogenicity Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS1245624754 CACNA1A Health Risk Likely pathogenic —
RS1245635020 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1245659010 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1245664073 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1245669690 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS1245684154 SLC25A38 Health Risk Pathogenic —
RS1245686232 ISG15 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
RS1245712932 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1245721727 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1245723119 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1245725634 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1245793918 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1245794040 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome
RS1245816431 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1245818626 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1245822059 CCDC39 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1245824749 KATNIP Health Risk Likely pathogenic —
RS1245839329 GRM6 Health Risk Likely pathogenic —
RS1245844735 LMNB1 Health Risk Pathogenic Syndrome with microcephaly as major feature, Microcephaly 26
RS1245845692 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1245853002 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1245885836 TNNI3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1245915542 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1245934608 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1245939928 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1245963500 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1245995530 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1246009294 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy
RS1246013998 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
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