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
RS1398835710 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS139883752 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1398838997 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS139884486 IRF4 Health Risk Conflicting classifications of pathogenicity —
RS139884665 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS1398859175 PTPN11 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS139885956 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS1398860901 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139887370 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS1398874051 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1398880084 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1398892633 PEX1 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS139889481 CATSPER1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, CATSPER1-related disorder
RS139889867 C4B Health Risk Conflicting classifications of pathogenicity Complement component 4b deficiency, Complement component 4b deficiency
RS139890337 DUOX2 Health Risk Likely pathogenic —
RS139891446 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS139891783 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS139891908 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS139892282 LCA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139892427 SASH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary cancer
RS139893395 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS139893755 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Cardiovascular phenotype
RS1398939540 EXOSC3 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS139894525 PPARG Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, PPARG-related disorder
RS1398945915 EPRS1 Health Risk Pathogenic —
RS1398951357 PSEN1 Health Risk Conflicting classifications of pathogenicity Acne inversa, familial
RS139895527 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS139897506 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, USH1G-related disorder
RS139897844 TAB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139898175 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4C, Susceptibility to mononeuropathy of the median nerve
RS139899201 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS139899756 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1399005702 HSD3B2 Health Risk Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS139901493 GFM2 Health Risk Conflicting classifications of pathogenicity —
RS139901585 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS139901716 KCND3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Spinocerebellar ataxia type 19/22
RS139901820 PITPNM3 Health Risk Conflicting classifications of pathogenicity PITPNM3-related disorder, PITPNM3-related disorder
RS139902223 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS139902461 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Inborn genetic diseases
RS139902499 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS1399026048 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1399037623 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1399039412 RHO Health Risk Pathogenic —
RS1399051445 KIFBP Health Risk Conflicting classifications of pathogenicity Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS139905505 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1399057229 DDX41 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS139905959 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS1399070077 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139907815 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS1399081375 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS139908762 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SI-related disorder
RS139909055 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Inborn genetic diseases
RS1399096076 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS139909733 CLCNKB Health Risk Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS1399097617 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS1399104304 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Inborn genetic diseases
RS1399106413 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS1399113954 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1399124034 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS139912465 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS139912794 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS139915283 SAT1 Health Risk Conflicting classifications of pathogenicity —
RS1399161903 CAST Health Risk Likely pathogenic CAST-related disorder, CAST-related disorder
RS1399162372 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1399164820 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS139916610 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS139919040 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS139919229 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS139919378 KCNK18 Health Risk Conflicting classifications of pathogenicity —
RS1399194192 ARID1B Health Risk Likely pathogenic —
RS1399198786 EDNRB Health Risk Pathogenic —
RS1399199211 SAMHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Aicardi-Goutieres syndrome 5
RS1399200035 PYROXD1 Health Risk Pathogenic —
RS139920081 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139920308 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS139920321 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139920579 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS139921272 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, USH2A-related disorder
RS1399213398 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS139922045 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1C
RS139922367 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Inborn genetic diseases
RS1399240553 PET100 Health Risk Likely pathogenic —
RS1399242305 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS139924571 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity CDK5RAP2-related disorder, CDK5RAP2-related disorder
RS139924723 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS139926138 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS139926503 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1399266964 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1399269122 MCM3AP Health Risk Pathogenic —
RS139927033 TCTN2 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 8
RS1399282762 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Neurogenic scapuloperoneal syndrome
RS139928771 OCLN Health Risk Conflicting classifications of pathogenicity —
RS139929314 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS139929439 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS139929890 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS139931025 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1399310620 MCM3AP Health Risk Conflicting classifications of pathogenicity —
RS139931303 COQ7 Health Risk Conflicting classifications of pathogenicity COQ7-related disorder, COQ7-related disorder
RS139931919 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS139932035 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-related disorder, Inborn genetic diseases
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