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
RS1247270735 ACTG2 Health Risk Likely pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
RS1247282335 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1247305358 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1247310031 USH2A Health Risk Likely pathogenic —
RS1247313340 MYH7 Health Risk Likely pathogenic Congenital myopathy with fiber type disproportion, Hypertrophic cardiomyopathy
RS1247346147 HPRT1 Health Risk Likely pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS1247353236 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1247360325 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1247369056 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS1247378731 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1247386618 HOXB1 Health Risk Pathogenic Facial paresis, hereditary congenital
RS1247391985 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1247392012 ANXA11 Health Risk Pathogenic Amyotrophic lateral sclerosis type 23, ANXA11-related disorder
RS1247403237 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Inborn genetic diseases
RS1247404453 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS1247408229 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, Frontotemporal dementia
RS1247410343 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1247413029 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1247419225 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS1247421714 LZTFL1 Health Risk Pathogenic —
RS1247424432 SLC25A42 Health Risk Pathogenic Metabolic crises, recurrent
RS1247427997 TMCO1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1247437511 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1247438528 SAMD9 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, MIRAGE syndrome
RS1247454080 SPR Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1247460110 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1247476725 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1247491045 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1247497521 PNP Health Risk Pathogenic/Likely pathogenic Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease
RS1247498705 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1247507359 GOT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 82
RS1247510142 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1247510585 FMN2 Health Risk Pathogenic Intellectual disability, autosomal recessive 47
RS1247511938 GOLGA2 Health Risk Pathogenic —
RS1247540257 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS1247551175 SQSTM1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1247563219 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1247598917 ANK1 Health Risk Likely pathogenic —
RS1247617743 CCDC88A Health Risk Pathogenic —
RS1247635972 GALK1 Health Risk Likely pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS12476364 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1247651367 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS1247665387 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS1247668825 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1247689593 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1247705831 SOX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases
RS1247712895 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1247714244 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1247718783 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS1247729687 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disorder
RS1247734675 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1247757066 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1247757810 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS1247764954 DONSON Health Risk Pathogenic —
RS1247804051 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1247811674 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS1247861318 CEP290 Health Risk Pathogenic Joubert syndrome, Nephronophthisis
RS1247870598 PIEZO1 Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Pancytopenia
RS1247882278 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1247886882 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1247893374 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1247894077 ZMYM2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Inborn genetic diseases
RS1247902323 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1247902894 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1247904060 GREB1L Health Risk Likely pathogenic —
RS1247907206 WNK1 Health Risk Likely pathogenic —
RS1247917628 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1247927038 PIGO Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1247929677 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1247932580 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1247934219 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS1247963130 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1247974278 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1247991302 PCLO Health Risk Pathogenic —
RS1248002612 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1248028929 ZNF469 Health Risk Pathogenic —
RS1248031379 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1248034407 LOXHD1 Health Risk Pathogenic —
RS1248039821 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS1248040495 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1248051594 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1248063937 DLL1 Health Risk Pathogenic Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
RS1248072601 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1248093496 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1248094870 HSD3B2 Health Risk Pathogenic Congenital adrenal hyperplasia, Congenital adrenal hyperplasia
RS12481082 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1248127840 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1248130436 SMCHD1 Health Risk Likely pathogenic SMCHD1-related disorder, SMCHD1-related disorder
RS1248143390 MCCC2 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1248147660 ARMC9 Health Risk Likely pathogenic Joubert syndrome 30, Joubert syndrome 30
RS1248148456 KLHL7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1248155083 TNNI3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1248156475 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Hearing loss
RS1248188387 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1248203737 RHO Health Risk Likely pathogenic —
RS1248231190 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1248251121 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1248255443 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS1248287792 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, Age related macular degeneration 13
RS1248289980 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
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