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
RS780679627 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS780680047 GRIA3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Epileptic encephalopathy
RS780680647 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS780682072 CRB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS780682938 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS780683528 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS780684206 GBA2 Health Risk Likely pathogenic —
RS780685071 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS780685346 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS780686362 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS780686559 AARS2 Health Risk Pathogenic Leukoencephalopathy, progressive
RS780689541 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Inborn genetic diseases
RS780689605 TMIE Health Risk Pathogenic/Likely pathogenic —
RS780689756 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS780690561 TYMP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intestinal pseudo-obstruction
RS780690814 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS780690857 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS780691008 GFM2 Health Risk Conflicting classifications of pathogenicity —
RS780691086 KCNJ1 Health Risk Pathogenic Bartter disease type 2, Bartter disease type 2
RS780691494 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS780692442 IGHMBP2 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS780692790 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS780693982 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS780694207 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS780695124 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS780695627 LAMA2 Health Risk Conflicting classifications of pathogenicity Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS780696613 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS780697353 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780697796 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 41
RS780699445 RINT1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS780701076 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS78070123 TMPRSS15 Health Risk Conflicting classifications of pathogenicity TMPRSS15-related disorder, TMPRSS15-related disorder
RS780701843 DNAAF3 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780702096 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780703403 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Congenital myopathy 22A
RS780703525 MRPS22 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS780703747 FMO3 Health Risk Pathogenic —
RS780704826 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780705654 KLHL7 Health Risk Conflicting classifications of pathogenicity PERCHING syndrome, Cold-induced sweating syndrome 1
RS780705655 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS780706088 PKD1L1 Health Risk Likely pathogenic —
RS780706937 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780707007 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS780707255 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS780707722 C5 Health Risk Conflicting classifications of pathogenicity —
RS780708835 NIPBL Health Risk Pathogenic See cases, See cases
RS780709015 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS780709977 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS780710009 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS780710019 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS780710721 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS780710758 TET2 Health Risk Conflicting classifications of pathogenicity EBV-positive nodal T- and NK-cell lymphoma, Myelodysplastic syndrome
RS780713145 OCA2 Health Risk Likely pathogenic —
RS780714982 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS780715340 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS780716161 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS780716382 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS780716926 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS780718243 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Polymicrogyria
RS780719278 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS780719523 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS780719805 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Sick sinus syndrome 2
RS780720013 STAT3 Health Risk Conflicting classifications of pathogenicity STAT3 gain of function, Hyper-IgE recurrent infection syndrome 1
RS780720490 KYNU Health Risk Pathogenic Catel-Manzke syndrome, Catel-Manzke syndrome
RS780721001 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS780721021 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780721689 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS780721865 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS780722371 BMPR2 Health Risk Pathogenic Pulmonary hypertension, primary
RS780723803 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS780724170 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS780724173 GLB1 Health Risk Pathogenic GM1 gangliosidosis type 3, Mucopolysaccharidosis
RS780724594 PIK3R1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 7, autosomal recessive
RS780724976 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS780725241 POMT2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, POMT2-related disorder
RS780728738 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS780732891 SLC45A2 Health Risk Pathogenic —
RS780733773 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS780733881 RPGRIP1 Health Risk Likely pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS780735376 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS780735559 SFRP4 Health Risk Pathogenic —
RS780736141 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780737237 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS780737734 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS780737889 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, Primary ciliary dyskinesia
RS780738565 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS780739712 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS780740673 CELSR3 Health Risk Likely risk allele Tourette syndrome, Tourette syndrome
RS780742937 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, EHMT1-related disorder
RS780743612 HMMR Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS780744534 ABCG5 Health Risk Likely pathogenic Sitosterolemia, Sitosterolemia
RS780745206 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780745598 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS780747266 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS780747709 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS780748348 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780748531 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS780748586 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS780748786 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS780749621 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
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