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
RS1589842816 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1589844592 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS1589844927 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS1589845386 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1589846743 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS1589866171 NFKB2 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1589878956 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1589880497 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1589884185 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1589891039 HBB Health Risk Pathogenic —
RS1589892417 HBB Health Risk Pathogenic —
RS1589899290 HOGA1 Health Risk Pathogenic —
RS1589907586 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1589908300 HOGA1 Health Risk Likely pathogenic —
RS1589919815 SYNE1 Health Risk Likely pathogenic —
RS1589931156 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1589947644 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1589948943 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS1589950125 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1589956565 KCNQ1 Health Risk Pathogenic —
RS1589957233 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Congenital long QT syndrome
RS1589957697 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS1589957719 KCNQ1 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1589957756 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS1589962586 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS1589965249 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1589966038 SYCE1 Health Risk Pathogenic —
RS1589967006 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1589968661 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome
RS1589970134 SUFU Health Risk Pathogenic Medulloblastoma, Medulloblastoma
RS1589970228 SUFU Health Risk Likely pathogenic Medulloblastoma, Gorlin syndrome
RS1589974610 EBF3 Health Risk Conflicting classifications of pathogenicity Hypotonia, ataxia
RS1589974634 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1589981178 SLC18A2 Health Risk Pathogenic/Likely pathogenic Abnormal dense granules, Abnormal dense granule content
RS1589994032 VPS13A Health Risk Pathogenic —
RS1589996458 TUB Health Risk Pathogenic/Likely pathogenic Retinal dystrophy and obesity, Retinal dystrophy and obesity
RS1590003601 VPS13A Health Risk Pathogenic/Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS1590007244 UROS Health Risk Pathogenic Cutaneous porphyria, Cutaneous porphyria
RS1590008294 DEAF1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 24
RS1590013404 DEAF1 Health Risk Likely pathogenic —
RS1590017652 DEAF1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-epilepsy-extrapyramidal syndrome, Developmental disorder
RS1590017658 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1590018153 TWNK Health Risk Likely pathogenic mitochondrial hepatopathy, mitochondrial hepatopathy
RS1590020406 TWNK Health Risk Pathogenic —
RS1590020571 TWNK Health Risk Likely pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS1590028691 DEAF1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 24
RS1590039859 OTOG Health Risk Pathogenic —
RS1590045340 PDZD7 Health Risk Likely pathogenic —
RS1590054876 DNA2 Health Risk Likely pathogenic Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS1590055107 DNA2 Health Risk Likely pathogenic —
RS1590059865 HPS5 Health Risk Pathogenic —
RS1590061914 SUFU Health Risk Pathogenic —
RS1590062006 SUFU Health Risk Likely pathogenic Gorlin syndrome, Medulloblastoma
RS1590062007 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1590062899 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS1590062961 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1590063305 SUFU Health Risk Likely pathogenic Gorlin syndrome, Medulloblastoma
RS1590065940 SUFU Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1590066162 SUFU Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1590072094 TALDO1 Health Risk Likely pathogenic —
RS1590076969 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS1590081328 KCNQ1 Health Risk Pathogenic/Likely pathogenic Congenital long QT syndrome, Long QT syndrome
RS1590081349 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1590081467 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Congenital long QT syndrome
RS1590082242 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Long QT syndrome 1
RS1590082264 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1590082278 SUFU Health Risk Pathogenic —
RS1590084324 SUFU Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1590088831 KCNC1 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1590092132 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1590102028 SYNE1 Health Risk Likely pathogenic —
RS1590106815 KCNC1 Health Risk Likely pathogenic Progressive myoclonic epilepsy type 7, Progressive myoclonic epilepsy type 7
RS1590122229 ARL3 Health Risk Pathogenic Progressive cone degeneration, Progressive cone degeneration
RS1590126497 ENTPD1 Health Risk Pathogenic Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS1590129146 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1590129294 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1590129454 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1590129487 XRCC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1590134297 LPL Health Risk Pathogenic —
RS1590140903 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1590150660 CDKN1C Health Risk Pathogenic Beckwith-Wiedemann syndrome, Beckwith-Wiedemann syndrome
RS1590154255 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS1590165106 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1590166832 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1590168246 TH Health Risk Likely pathogenic Dystonic disorder, Autosomal recessive DOPA responsive dystonia
RS1590168368 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1590169700 SLC6A5 Health Risk Pathogenic Exaggerated startle response, Exaggerated startle response
RS1590169710 TH Health Risk Pathogenic Dystonic disorder, Autosomal recessive DOPA responsive dystonia
RS1590169802 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1590170978 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1590174665 SLC6A5 Health Risk Likely pathogenic SLC6A5-related disorder, SLC6A5-related disorder
RS1590192032 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS1590203064 CYP17A1 Health Risk Pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1590203882 CYP17A1 Health Risk Pathogenic —
RS1590204913 CYP17A1 Health Risk Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS1590215915 PGAP2 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Hyperphosphatasia with intellectual disability syndrome 3
RS1590216677 LDHA Health Risk Pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS1590230520 SYNE1 Health Risk Likely pathogenic —
RS1590239797 SBF2 Health Risk Likely pathogenic —
RS1590243044 CNNM2 Health Risk Likely pathogenic —
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