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
RS1440842317 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144084678 SERPINC1 Health Risk Conflicting classifications of pathogenicity Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS144084915 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS144085622 MECOM Health Risk Conflicting classifications of pathogenicity MECOM-related disorder, Inborn genetic diseases
RS144085805 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS144085962 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS144085995 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS144086049 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, Hereditary cancer-predisposing syndrome
RS1440862488 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS144086377 LEMD3 Health Risk Conflicting classifications of pathogenicity LEMD3-related disorder, LEMD3-related disorder
RS144086611 CNTRL Health Risk Conflicting classifications of pathogenicity —
RS144087221 IFT57 Health Risk Conflicting classifications of pathogenicity —
RS144087359 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS144087445 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS144087607 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS144087649 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SETBP1-related disorder
RS144088322 MAP1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hearing loss
RS1440884580 LAMB2 Health Risk Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS1440888766 CD3G Health Risk Likely pathogenic Combined immunodeficiency due to CD3gamma deficiency, Combined immunodeficiency due to CD3gamma deficiency
RS1440888810 BCL11B Health Risk Conflicting classifications of pathogenicity —
RS1440890027 LDHA Health Risk Pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS1440898011 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS144090917 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Cervical cancer
RS144091165 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1440911824 TG Health Risk Pathogenic —
RS1440913446 P3H2 Health Risk Pathogenic/Likely pathogenic P3H2-related disorder, P3H2-related disorder
RS144091742 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Inborn genetic diseases
RS1440918649 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1440920591 SLC5A5 Health Risk Likely pathogenic —
RS144092577 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS144092780 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder
RS144093133 INS Health Risk Conflicting classifications of pathogenicity INS-related disorder, INS-related disorder
RS144093705 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS1440946792 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1440947266 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1440948694 ABCA1 Health Risk Likely pathogenic Hypoalphalipoproteinemia, primary
RS144095207 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS144095826 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1440975003 NPHS1 Health Risk Pathogenic —
RS144098289 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Gastric cancer
RS144098531 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS144098854 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144099208 HDAC4 Health Risk Conflicting classifications of pathogenicity —
RS144099251 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS144099376 MAT1A Health Risk Pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS144099488 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Inborn genetic diseases
RS144099489 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS144099522 HPS3 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS144099604 POLR3F Health Risk Conflicting classifications of pathogenicity —
RS144100380 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS144100614 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS1441014377 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS144101806 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1441030187 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS144103035 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Inborn genetic diseases
RS1441030917 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS144103124 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS144103228 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS144104172 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, GPR179-related disorder
RS144104577 PGM3 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 23, Severe combined immunodeficiency disease
RS144104914 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144105769 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS144106169 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Inborn genetic diseases
RS144106341 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS144106775 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS1441084539 FDXR Health Risk Likely pathogenic Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
RS144109267 CYP4V2 Health Risk Pathogenic —
RS144109380 TSFM Health Risk Conflicting classifications of pathogenicity Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS1441100300 FANCG Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS144110783 FOCAD Health Risk Conflicting classifications of pathogenicity FOCAD-related disorder, Inborn genetic diseases
RS144111552 MMADHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
RS144111588 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS1441120961 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS144112103 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS9-related disorder
RS1441136255 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144115061 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1441151762 EYA4 Health Risk Likely pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS1441152520 SPTAN1 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS144115463 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS1441154788 COL7A1 Health Risk Likely pathogenic —
RS144115730 SLC26A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144116037 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS144116311 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS144116735 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1441174171 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1441183063 TRMU Health Risk Pathogenic —
RS144118442 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS144118534 LAMC3 Health Risk Conflicting classifications of pathogenicity LAMC3-related disorder, Inborn genetic diseases
RS144118716 NPHS1 Health Risk Likely pathogenic —
RS144118960 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1441197277 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1441200320 TRIOBP Health Risk Pathogenic —
RS144120746 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS144120866 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS144120903 VIPAS39 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS144121978 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS144122107 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS1441228030 SLC12A3 Health Risk Likely pathogenic —
RS144122901 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Inborn genetic diseases
RS1441230589 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
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