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
RS1264310782 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome
RS1264337497 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1264338576 ABCA4 Health Risk Likely pathogenic —
RS1264350592 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1264355256 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1264357217 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1264359374 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1264362642 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS1264369249 SLC2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1264371529 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1264379650 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1264382469 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS1264383341 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS1264383808 COG8 Health Risk Pathogenic COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS1264391272 PCDH15 Health Risk Pathogenic —
RS1264399626 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1264452815 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS1264504989 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1264505521 FAT4 Health Risk Pathogenic —
RS1264511763 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1264516058 MRE11 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1264533950 ANK1 Health Risk Likely pathogenic —
RS1264537420 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1264559331 ITGB4 Health Risk Likely pathogenic —
RS1264567694 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1264575683 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1264577481 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1264582344 ATP13A2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS1264586092 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1264621844 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1264635358 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1264639964 MKRN3 Health Risk Pathogenic Precocious puberty, central
RS1264683917 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS1264693693 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1264701182 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1264701196 GABRA1 Health Risk Likely pathogenic Epilepsy, idiopathic generalized
RS1264710617 KRT5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Epidermolysis bullosa simplex
RS1264725941 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1264734195 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I
RS1264741133 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1264744701 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1264747554 PSPH Health Risk Likely pathogenic Deficiency of phosphoserine phosphatase, Deficiency of phosphoserine phosphatase
RS1264762735 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1264762836 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1264780659 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1264781571 RLBP1 Health Risk Pathogenic —
RS1264793293 SZT2 Health Risk Likely pathogenic —
RS1264794214 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, AIPL1-related retinopathy
RS1264821826 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1264839312 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1264843070 GJA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cataract 14 multiple types
RS1264858438 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1264862631 NOD2 Health Risk Pathogenic Inflammatory bowel disease 1, Inflammatory bowel disease 1
RS1264872458 MRE11 Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 1, Ataxia-telangiectasia-like disorder 1
RS1264879568 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS1264884144 SLC45A2 Health Risk Pathogenic —
RS1264884607 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1264889089 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1264890888 PUS7 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with abnormal behavior, microcephaly
RS1264895281 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1264913843 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS1264918703 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1264952975 KCNJ10 Health Risk Likely pathogenic —
RS1264977781 ACTL6B Health Risk Likely pathogenic Intellectual developmental disorder with severe speech and ambulation defects, Intellectual developmental disorder with severe speech and ambulation defects
RS1264981144 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1265005474 KDELR2 Health Risk Pathogenic Osteogenesis imperfecta, type 21
RS1265006535 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1265012285 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1265023925 EHMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kleefstra syndrome 1
RS1265030199 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1265030225 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1265035795 ATP8A2 Health Risk Pathogenic —
RS1265044710 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1265049777 FOXP2 Health Risk Pathogenic —
RS1265062815 SCN4B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 10
RS1265069029 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
RS1265090791 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Congenital bile acid synthesis defect 3
RS1265096046 KCNQ5 Health Risk Pathogenic —
RS1265117085 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1265127867 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1265160496 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS1265163979 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1265165427 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1265168989 CLDN14 Health Risk Pathogenic —
RS1265200514 MYO15A Health Risk Likely pathogenic —
RS1265221541 ABCB4 Health Risk Pathogenic/Likely pathogenic Low phospholipid associated cholelithiasis, Low phospholipid associated cholelithiasis
RS1265240757 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1265248322 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1265248594 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, SMARCAL1-related disorder
RS1265250025 LTBP3 Health Risk Pathogenic/Likely pathogenic Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS1265252597 WDR62 Health Risk Pathogenic —
RS1265260122 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1265262160 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS1265287370 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1265291141 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1265294177 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS1265303209 LIFR Health Risk Likely pathogenic —
RS1265306168 P3H2 Health Risk Pathogenic —
RS1265307831 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS1265322006 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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