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
RS367990953 CCBE1 Health Risk Likely pathogenic Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1
RS367991209 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS367991517 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS367991537 PNP Health Risk Conflicting classifications of pathogenicity Purine-nucleoside phosphorylase deficiency, Purine-nucleoside phosphorylase deficiency
RS367991818 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS367992907 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiovascular phenotype
RS367993555 NIPAL4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 6, Inborn genetic diseases
RS367994477 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS367995901 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS367997079 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS367997645 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS367998175 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS367998288 APTX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367998669 KRT9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368000478 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368001060 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS368001545 AFAP1 Health Risk Conflicting classifications of pathogenicity —
RS368001837 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS368001901 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS368003279 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, 11 conditions
RS368003493 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS368003929 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Inborn genetic diseases
RS368005198 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368005947 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS368006283 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS368006487 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS368006874 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 11
RS368007918 COL7A1 Health Risk Pathogenic 7 conditions, Recessive dystrophic epidermolysis bullosa
RS368007942 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
RS368008071 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS368008077 PLA2G6 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation, PLA2G6-associated neurodegeneration
RS368008171 PIGW Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS368008966 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, Inborn genetic diseases
RS368009374 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder
RS368010212 TTN Health Risk Conflicting classifications of pathogenicity —
RS368010652 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS368011392 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS368011737 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Beckwith-Wiedemann syndrome
RS368011890 CLTC Health Risk Likely pathogenic —
RS368012172 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS368012174 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS368013673 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368015447 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS368016280 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS368016542 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS368017088 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS368020224 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS368021072 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS368021683 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 3
RS368022190 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS368022715 SNORD118 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS368023868 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Cardiovascular phenotype
RS368024152 TAF1 Health Risk Conflicting classifications of pathogenicity X-linked dystonia-parkinsonism, TAF1-related disorder
RS368025611 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS368025965 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368026488 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368026621 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS368026708 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS368027306 CLDN14 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 29, Hearing impairment
RS368028300 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS368028754 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, NIPBL-related disorder
RS368029297 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS368031082 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS368032094 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS368032168 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS368033860 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS368033879 DNAH1 Health Risk Pathogenic/Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS368034037 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS368034669 MAGEL2 Health Risk Conflicting classifications of pathogenicity MAGEL2-related disorder, MAGEL2-related disorder
RS368034969 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS368035069 BCS1L Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome
RS368035400 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS368035633 GSDME Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS368036062 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS368038166 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS368038362 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Tibial muscular dystrophy
RS368039993 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Dent disease type 1
RS368040011 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ASXL3-related disorder
RS368040764 MASP2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to MASP-2 deficiency, Immunodeficiency due to MASP-2 deficiency
RS368040932 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS368041677 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS368042869 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS368043002 EEF1A2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 33
RS368043113 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS368043810 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Inborn genetic diseases
RS368043832 SGCE Health Risk Likely pathogenic Myoclonic dystonia 11, Myoclonic dystonia 11
RS368044285 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS368044961 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS368047060 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS368047383 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS368047468 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS368049107 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS368049278 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS368049319 MUSK Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS368049446 IMPG1 Health Risk Conflicting classifications of pathogenicity —
RS368049814 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa
RS368050707 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS368050948 TECTA Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 21, Hearing loss
RS368052091 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS368052792 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
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