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
RS140217708 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1402178514 KCNE1 Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Long QT syndrome 5
RS140217866 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS140218185 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS1402186540 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1402196530 NEK9 Health Risk Likely pathogenic Goldberg-Shprintzen syndrome, Goldberg-Shprintzen syndrome
RS1402202023 CA4 Health Risk Pathogenic —
RS1402204338 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS140220443 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4H
RS140220517 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS140220538 SERPINB6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 91, SERPINB6-related disorder
RS1402209451 DEGS1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS140221307 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder
RS140221316 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS140221463 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, FASN-related disorder
RS140221825 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, UTP4-related disorder
RS140221837 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS1402222766 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS140222511 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS140222626 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS140222667 DES Health Risk Conflicting classifications of pathogenicity Neurogenic scapuloperoneal syndrome, Kaeser type
RS140222720 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS140222993 FREM1 Health Risk Conflicting classifications of pathogenicity FREM1-related disorder, Inborn genetic diseases
RS140223281 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1402235122 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS140224236 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS1402244580 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS140224951 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS140225124 PROKR1 Health Risk Conflicting classifications of pathogenicity —
RS140225293 C2 Health Risk Likely pathogenic —
RS140227298 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 1, Cone-rod dystrophy
RS140227610 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS140228721 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS140228766 DRC2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS140229368 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1402299151 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS140230222 PHF3 Health Risk Conflicting classifications of pathogenicity —
RS1402302242 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS140230479 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, PGAM2-related disorder
RS140231188 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1402319857 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1402322681 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS140232663 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS140232809 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS1402329255 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS140233356 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS140234175 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS140234219 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, HPS4-related disorder
RS1402343211 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1402343399 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS140234726 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS1402362655 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS140236736 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS140236743 PALLD Health Risk Conflicting classifications of pathogenicity —
RS140236960 NDUFS7 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS140236996 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 12, Inborn genetic diseases
RS140237546 DMD Health Risk Conflicting classifications of pathogenicity DMD-related disorder, DMD-related disorder
RS1402379236 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS140238345 VPS13A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1402383909 SPTA1 Health Risk Pathogenic/Likely pathogenic —
RS1402386421 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS140238987 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 10, Neuronal ceroid lipofuscinosis
RS140239262 MASP2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to MASP-2 deficiency, Immunodeficiency due to MASP-2 deficiency
RS140239583 CNKSR1 Health Risk Conflicting classifications of pathogenicity —
RS140240214 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS140240551 COL9A1 Health Risk Pathogenic —
RS1402406091 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS140241271 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, MYH9-related disorder
RS140241383 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS140241435 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS1402429085 KIF5A Health Risk Pathogenic Amyotrophic lateral sclerosis, susceptibility to
RS140243105 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Intellectual disability
RS140243232 NANOG Health Risk Conflicting classifications of pathogenicity —
RS140243617 F12 Health Risk Conflicting classifications of pathogenicity Factor XII deficiency disease, Hereditary angioedema type 3
RS1402437099 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1402437185 ASPM Health Risk Pathogenic —
RS140243793 SDHA Health Risk Pathogenic Mitochondrial complex II deficiency, nuclear type 1
RS140243918 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS140244212 TNFRSF1A Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Autoinflammatory syndrome
RS140244245 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1402442627 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS140245123 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS140245520 CEP135 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140245521 ZDHHC15 Health Risk Conflicting classifications of pathogenicity —
RS140245968 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS1402460878 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS140246095 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS140246224 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1402463567 ARL6 Health Risk Pathogenic Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS140246430 COQ8A Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Inborn genetic diseases
RS1402464909 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome
RS140246538 LAMA4 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction cardiomyopathy, Cardiovascular phenotype
RS140246559 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1402468701 RHO Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Congenital stationary night blindness autosomal dominant 1
RS1402479694 TRMT1 Health Risk Pathogenic/Likely pathogenic —
RS140248383 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1402487087 ALDH6A1 Health Risk Conflicting classifications of pathogenicity Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS140249737 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS140250347 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS140250745 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
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