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
RS199824136 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Generalized pustular psoriasis
RS199824213 GLUL Health Risk Conflicting classifications of pathogenicity Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS199824717 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199825346 MCIDAS Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Ciliary dyskinesia
RS199826370 FDXR Health Risk Conflicting classifications of pathogenicity Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy
RS199826380 JUP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 12
RS199826657 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS199826686 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS199826737 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS199826743 ALAS2 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia 1, X-linked erythropoietic protoporphyria
RS199827465 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS199827515 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS199827643 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS199828145 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS199828294 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS199828363 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS199828744 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS199828796 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS199829182 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS199830036 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS199830303 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Acute myeloid leukemia
RS199830512 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Heart failure
RS199830550 ARL2BP Health Risk Pathogenic Retinal dystrophy, ARL2BP-related disorder
RS199830721 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS199831317 TTC5 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism, Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
RS199831414 EXTL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199831474 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 3, von Willebrand disease type 2
RS199831511 AMH Health Risk Conflicting classifications of pathogenicity Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS199831541 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Optic atrophy
RS199831544 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS199831660 CYP2U1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS199831729 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS199831827 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS199831923 RNF43 Health Risk Conflicting classifications of pathogenicity RNF43-related disorder, Hyperplastic polyposis syndrome
RS199831983 GLI1 Health Risk Likely pathogenic GLI1-related disorder, GLI1-related disorder
RS199832006 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199832007 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS199832199 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS199832333 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS199832638 BSND Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199833067 KCNC3 Health Risk Conflicting classifications of pathogenicity —
RS199833589 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Inborn genetic diseases
RS199833843 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS199834077 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS199834143 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, TTN-related disorder
RS199834369 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS199834605 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS199834691 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS199834790 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS199834850 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS199834906 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS199835213 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS199835295 ADAM18 Health Risk Conflicting classifications of pathogenicity —
RS199835443 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS199835479 KCNN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dehydrated hereditary stomatocytosis 2
RS199835696 RIPK4 Health Risk Pathogenic Curly hair, ankyloblepharon
RS199835797 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS199835958 HOMER2 Health Risk Conflicting classifications of pathogenicity —
RS199836119 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS199836125 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS199836262 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS199836342 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS199836349 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS199836359 KRT2 Health Risk Conflicting classifications of pathogenicity Ichthyosis bullosa of Siemens, Inborn genetic diseases
RS199836776 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS199836777 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS199837664 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS199837769 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199837807 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, CNGA3-related disorder
RS199837826 NDUFB11 Health Risk Conflicting classifications of pathogenicity —
RS199837883 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS199838024 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS199838658 ZNF41 Health Risk Conflicting classifications of pathogenicity —
RS199838752 DOCK6 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 2, DOCK6-related disorder
RS199838876 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS199839039 STRC Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Rare genetic deafness
RS199839337 BRD4 Health Risk Conflicting classifications of pathogenicity —
RS199839554 SAG Health Risk Conflicting classifications of pathogenicity Oguchi disease, Retinitis pigmentosa
RS199839578 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS199839840 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS199839852 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS199840329 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS199840367 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS199840434 WDR35 Health Risk Pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS199840563 HIVEP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 43
RS199840711 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS199840817 GLRB Health Risk Conflicting classifications of pathogenicity Hyperekplexia 2, GLRB-related disorder
RS199840870 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, PLCG2-related disorder
RS199840952 ZAP70 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency, Autoimmune disease
RS199841445 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, ABCB11-related disorder
RS199841800 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary nonpolyposis colorectal neoplasms
RS199841998 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS199842004 DHX37 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199842148 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS199842179 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199842209 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS199842745 NDUFA11 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS199842850 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS199842980 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS199843000 COL10A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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