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
RS149148326 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS149148368 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1491486533 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS149148763 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS149150736 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS149151916 CSF2RA Health Risk Pathogenic/Likely pathogenic Surfactant metabolism dysfunction, pulmonary
RS149152189 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS149152296 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1491527320 TSFM Health Risk Pathogenic —
RS149153003 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS149154108 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS1491544951 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS149154604 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS149155352 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS149155733 TTN Health Risk Conflicting classifications of pathogenicity —
RS149155738 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS149156534 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS149157799 NLRC4 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS149158221 SYNE4 Health Risk Conflicting classifications of pathogenicity SYNE4-related disorder, SYNE4-related disorder
RS149159118 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS149159881 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS149161075 TIMP3 Health Risk Conflicting classifications of pathogenicity Sorsby fundus dystrophy, Sorsby fundus dystrophy
RS149161808 NHERF1 Health Risk Conflicting classifications of pathogenicity NHERF1-related disorder, Inborn genetic diseases
RS149162273 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS149162499 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS149163315 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS149163316 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Inborn genetic diseases
RS149163610 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS149163661 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS149164396 MYH1 Health Risk Conflicting classifications of pathogenicity —
RS149164899 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS149165006 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS149165166 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS149165620 CAVIN4 Health Risk Conflicting classifications of pathogenicity —
RS149166048 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS149166384 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, LRP5-related disorder
RS149167939 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS149168939 CSF1R Health Risk Conflicting classifications of pathogenicity Hereditary diffuse leukoencephalopathy with spheroids, CSF1R-related disorder
RS149169068 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS149169865 LONP1 Health Risk Conflicting classifications of pathogenicity LONP1-related disorder, LONP1-related disorder
RS149170321 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149170427 CPLANE1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 17, Orofaciodigital syndrome type 6
RS149170494 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS149170955 DARS1 Health Risk Conflicting classifications of pathogenicity Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Inborn genetic diseases
RS149171104 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases
RS149171124 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS149171782 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS149172005 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS149172580 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS149172723 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS149173601 SPEN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149174093 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS149174359 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Inborn genetic diseases
RS149174555 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Sarcoma
RS149175905 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, PIGQ-related disorder
RS149176010 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS149176169 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta
RS149176738 CEP152 Health Risk Conflicting classifications of pathogenicity Seckel syndrome 5, Microcephaly 9
RS149176821 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS149177634 SNX10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149180414 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS149180605 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS149181127 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS149181384 B4GALT1 Health Risk Conflicting classifications of pathogenicity B4GALT1-congenital disorder of glycosylation, B4GALT1-congenital disorder of glycosylation
RS149182045 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS149182236 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS149182447 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
RS149182949 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS149183435 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS149183991 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS149184216 POLR3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149184731 PLD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149185385 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS149185431 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS149185729 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS149186357 SPTB Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS149186933 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Spermatogenic failure 50
RS149187225 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS149187750 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS149187760 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS149188165 ADAMTS9 Health Risk Conflicting classifications of pathogenicity —
RS149188892 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS149189267 TNNI3K Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS149189607 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS149190846 TPI1 Health Risk Conflicting classifications of pathogenicity Triosephosphate isomerase deficiency, Triosephosphate isomerase deficiency
RS149192929 SZT2 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS149193118 ASNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149193520 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS149193660 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149194681 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS149195094 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS149195362 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS149195472 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS149195735 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia X-linked intellectual disability (ATRX) syndrome
RS149195906 LAMC2 Health Risk Likely pathogenic —
RS149196259 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases
RS149197378 PTPN23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149197463 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS149198713 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS149199691 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Costello syndrome
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