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
RS1380850249 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS138085358 SLC1A3 Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 6, Episodic ataxia type 6
RS138085418 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1380858784 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome
RS138086769 F5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital factor V deficiency
RS138087003 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1380872774 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1380876424 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS138087806 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, USH2A-related disorder
RS1380878336 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS138088528 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1380889353 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS138088984 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS138089183 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS138089753 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, FKBP10-related disorder
RS1380904813 COL4A3 Health Risk Pathogenic —
RS1380918472 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1380919500 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS138092189 NPHS1 Health Risk Conflicting classifications of pathogenicity NPHS1-related disorder, NPHS1-related disorder
RS1380925561 ARFGEF2 Health Risk Pathogenic Periventricular heterotopia with microcephaly, autosomal recessive
RS138092785 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease 2
RS1380932561 NBAS Health Risk Likely pathogenic —
RS1380940215 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS138094037 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1380941851 TECTA Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS138094550 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, SLC25A13-related disorder
RS138094960 BAAT Health Risk Conflicting classifications of pathogenicity —
RS1380954046 GOSR2 Health Risk Pathogenic/Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1380965800 MC4R Health Risk Pathogenic BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
RS1380968057 ZNF142 Health Risk Pathogenic —
RS138097673 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS138097741 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1380982250 ANKLE2 Health Risk Pathogenic Microcephaly 16, primary
RS138098342 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiovascular phenotype
RS138098371 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Inborn genetic diseases
RS1380984220 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS138098808 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS138099253 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS1380999715 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS138100360 CARD14 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Pityriasis rubra pilaris
RS1381005435 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1381007585 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, KIT-related disorder
RS138100963 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS138101005 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1381011685 WFS1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 6, Wolfram syndrome 1
RS138101305 CASQ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Myopathy due to calsequestrin and SERCA1 protein overload
RS1381017299 C8A Health Risk Pathogenic/Likely pathogenic Type I complement component 8 deficiency, Type I complement component 8 deficiency
RS138102615 SUGCT Health Risk Conflicting classifications of pathogenicity SUGCT-related disorder, SUGCT-related disorder
RS138103656 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1381038824 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1381041583 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1381042061 COL17A1 Health Risk Pathogenic —
RS138105298 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS138105395 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS1381057964 NLRP5 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
RS138105834 TP53BP2 Health Risk Conflicting classifications of pathogenicity —
RS1381062033 TMC1 Health Risk Pathogenic —
RS138106524 AIMP1 Health Risk Conflicting classifications of pathogenicity —
RS138106612 RP1 Health Risk Conflicting classifications of pathogenicity RP1-related disorder, RP1-related disorder
RS1381068943 ABCC8 Health Risk Pathogenic —
RS1381069212 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS138107415 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS138108105 PRMT7 Health Risk Conflicting classifications of pathogenicity Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS138108276 TTI2 Health Risk Conflicting classifications of pathogenicity —
RS1381087007 NR2E3 Health Risk Pathogenic —
RS1381090737 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS138109666 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS138110172 CLCNKA Health Risk Conflicting classifications of pathogenicity Bartter disease type 4B, Bartter disease type 4B
RS138110910 MYH7 Health Risk Pathogenic Left ventricular noncompaction 5, Left ventricular noncompaction 5
RS138111360 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
RS1381117009 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS138111804 SRCAP Health Risk Conflicting classifications of pathogenicity Developmental delay, hypotonia
RS138111911 ROBO4 Health Risk Likely pathogenic Ascending tubular aorta aneurysm, Bicuspid aortic valve
RS138112218 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1381141633 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS138114191 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS138114586 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS138114609 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Autosomal dominant optic atrophy classic form
RS138114979 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1381150705 SLCO2A1 Health Risk Pathogenic —
RS138115393 RASA2 Health Risk Conflicting classifications of pathogenicity —
RS1381160481 DENND5A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 49
RS138116135 CHD4 Health Risk Conflicting classifications of pathogenicity Sifrim-Hitz-Weiss syndrome, Inborn genetic diseases
RS1381162017 SEC63 Health Risk Pathogenic —
RS1381167403 PLCG2 Health Risk Pathogenic Familial cold autoinflammatory syndrome 3, Familial cold autoinflammatory syndrome 3
RS138118085 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS1381186128 RYR1 Health Risk Pathogenic —
RS1381188740 EIF2B1 Health Risk Pathogenic —
RS138119149 AARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 8, Inborn genetic diseases
RS138120505 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Inborn genetic diseases
RS138121153 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS138121304 LARS2 Health Risk Conflicting classifications of pathogenicity Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4
RS138121813 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Compton-North congenital myopathy
RS138122556 ASH1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 52
RS138123187 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS1381237268 SPG11 Health Risk Pathogenic —
RS1381239923 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS138124482 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS138125166 THSD4 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, THSD4-related disorder
RS138125299 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases
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