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
RS115475262 EFHC1 Health Risk Conflicting classifications of pathogenicity Absence seizure, Myoclonic epilepsy
RS115476696 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS11547917 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS115479276 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Inborn genetic diseases
RS11548117 CDK13 Health Risk Pathogenic Congenital heart defects, dysmorphic facial features
RS115483891 MYH8 Health Risk Conflicting classifications of pathogenicity —
RS11548640 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS11548767 BBIP1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 18, Bardet-Biedl syndrome 18
RS115488133 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS115488979 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS115489112 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, NPHS1-related disorder
RS11548960 SLC6A8 Health Risk Likely pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS11548967 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS11549010 IDS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis
RS115491121 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, PACS1-related disorder
RS115491294 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal dominant
RS11549190 ACTG1 Health Risk Pathogenic/Likely pathogenic Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS11549191 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS11549196 ACTG1 Health Risk Conflicting classifications of pathogenicity Baraitser-winter syndrome 2, Autosomal dominant nonsyndromic hearing loss 20
RS11549225 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS11549231 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS115492908 MAPT Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia, MAPT-Related Spectrum Disorders
RS11549407 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS115494070 USH2A Health Risk Conflicting classifications of pathogenicity USH2A-related disorder, USH2A-related disorder
RS11549465 HIF1A Health Risk Conflicting classifications of pathogenicity Cholangiocarcinoma, Cholangiocarcinoma
RS11549467 HIF1A Health Risk Conflicting classifications of pathogenicity —
RS115494727 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS115496853 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, Inborn genetic diseases
RS11549909 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
RS11550119 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS115504901 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS115506357 MTMR2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1
RS115507225 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS115507440 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS115510695 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115511838 COL12A1 Health Risk Pathogenic Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS11551260 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS11551349 HSPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 13, Spastic paraplegia
RS11551664 NDUFS7 Health Risk Conflicting classifications of pathogenicity —
RS115518597 RTN4 Health Risk Conflicting classifications of pathogenicity —
RS115518856 LAMB1 Health Risk Conflicting classifications of pathogenicity LAMB1-related disorder, Inborn genetic diseases
RS11552146 PCK1 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS11552518 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS115526553 PIEZO2 Health Risk Conflicting classifications of pathogenicity PIEZO2-related disorder, PIEZO2-related disorder
RS11552695 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases
RS11552761 RHOA Health Risk Pathogenic EBV-positive nodal T- and NK-cell lymphoma, Neoplasm
RS11552822 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS11552823 CDKN2A Health Risk Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS11552864 WARS2 Health Risk Likely pathogenic Parkinsonism-dystonia 3, childhood-onset
RS11553228 FTL Health Risk Conflicting classifications of pathogenicity Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
RS115532916 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS115534729 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS11553545 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, RHBDF2-related disorder
RS11553554 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS115535983 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS11553676 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS115536785 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS115538130 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS11553836 CSTB Health Risk Likely pathogenic —
RS11553870 LDHA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS11554273 GNAS Health Risk Pathogenic McCune-Albright syndrome, Sex cord-stromal tumor
RS11554274 GNAS Health Risk Conflicting classifications of pathogenicity Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS11554290 NRAS Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS11554397 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS11554669 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS115549751 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS115550028 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS11555097 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS115551245 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS11555217 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, 2-3 toe syndactyly
RS11555444 NDUFA6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 33
RS115555106 ARHGEF18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARHGEF18-related disorder
RS115558715 POLE Health Risk Conflicting classifications of pathogenicity Familial colorectal cancer, Colorectal cancer
RS115563001 ATP6V1B1 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis with progressive nerve deafness, Renal tubular acidosis with progressive nerve deafness
RS115563233 TMEM67 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS115563929 LAMA3 Health Risk Conflicting classifications of pathogenicity LAMA3-related disorder, Inborn genetic diseases
RS11556408 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS11556620 SOD1 Health Risk Pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS11556732 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS115571066 SEC24D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SEC24D-related disorder
RS11557264 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with postural muscle atrophy, Cardiovascular phenotype
RS115574135 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS11557638 RARS1 Health Risk Conflicting classifications of pathogenicity RARS1-related disorder, Inborn genetic diseases
RS115577014 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS11558258 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS11558261 SERPINA1 Health Risk Pathogenic; other PI NULL(DEVON), PI Q0(DEVON)
RS11558264 SERPINA1 Health Risk Likely pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS11558436 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS11558538 HNMT Health Risk Benign; risk factor Inherited susceptibility to asthma, HNMT-related disorder
RS11558550 MYLK Health Risk Conflicting classifications of pathogenicity Familial aortic aneurysms, Aortic aneurysm
RS115585711 KIT Health Risk Conflicting classifications of pathogenicity Piebaldism, Gastrointestinal stromal tumor
RS115588653 PDGFRL Health Risk Conflicting classifications of pathogenicity —
RS115590670 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 2
RS115591088 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS115594989 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS115595706 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS115596308 LPAR6 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 8, Hypotrichosis 8
RS115597604 ARHGEF15 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS115598432 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS115598824 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
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