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
RS1563006133 FLNC Health Risk Pathogenic/Likely pathogenic Distal myopathy with posterior leg and anterior hand involvement, Myofibrillar myopathy 5
RS1563006160 FLNC Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia, familial
RS1563008413 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1563009379 ABCB4 Health Risk Pathogenic —
RS1563012148 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS1563018529 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, Inborn genetic diseases
RS1563044711 DNAH8 Health Risk Pathogenic Spermatogenic failure 46, Spermatogenic failure 46
RS1563045683 FOXP2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1563047452 FOXP2 Health Risk Pathogenic —
RS1563049863 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1563073737 CLCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital myotonia
RS1563074191 CLCN1 Health Risk Likely pathogenic —
RS1563074523 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1563074540 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1563075864 CLCN1 Health Risk Conflicting classifications of pathogenicity —
RS1563075936 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1563078716 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1563078827 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1563080014 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1563083476 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1563083759 TNPO3 Health Risk Likely pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1F, Muscular dystrophy
RS1563084597 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1563086980 CLCN1 Health Risk Pathogenic —
RS1563087092 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1563087306 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS1563088209 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1563090141 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1563091175 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS1563092740 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1563118316 SYNE1 Health Risk Pathogenic —
RS1563123183 SYNE1 Health Risk Pathogenic —
RS1563128340 NOBOX Health Risk Pathogenic —
RS1563130387 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1563131309 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS1563132006 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS1563145763 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1563148264 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Cardiovascular phenotype
RS1563152963 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1563156461 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1563156725 KCNH2 Health Risk Likely pathogenic —
RS1563156868 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS1563159945 TWIST1 Health Risk Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1563159980 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1563160116 TWIST1 Health Risk Pathogenic/Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1563160337 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS1563160541 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS1563161306 PRKAG2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1563161538 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome 2
RS1563161565 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1563162043 DST Health Risk Pathogenic Congenital contracture, Cardiomyopathy
RS1563168459 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1563169296 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1563169382 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Congenital long QT syndrome
RS1563181538 EZH2 Health Risk Pathogenic Weaver syndrome, Weaver syndrome
RS1563181659 EZH2 Health Risk Likely pathogenic Weaver syndrome, Weaver syndrome
RS1563183444 AUTS2 Health Risk Likely pathogenic —
RS1563183469 AUTS2 Health Risk Likely pathogenic Multiple congenital anomalies, Corpus callosum
RS1563183492 AUTS2 Health Risk Likely pathogenic Autism spectrum disorder due to AUTS2 deficiency, Autism spectrum disorder due to AUTS2 deficiency
RS1563189895 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 2, Long QT syndrome
RS1563193513 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS1563197714 MCPH1 Health Risk Likely pathogenic —
RS1563198990 SHH Health Risk Pathogenic —
RS1563205364 EZH2 Health Risk Likely pathogenic —
RS1563211361 KRIT1 Health Risk Likely pathogenic —
RS1563211627 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563211839 KRIT1 Health Risk Likely pathogenic —
RS1563212150 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563216932 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS1563221666 SFTPC Health Risk Likely pathogenic SFTPC-related disorder, SFTPC-related disorder
RS1563239833 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563240592 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563240821 KRIT1 Health Risk Likely pathogenic —
RS1563242500 KRIT1 Health Risk Pathogenic —
RS1563242833 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563242899 KRIT1 Health Risk Likely pathogenic —
RS1563243016 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563243075 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563244596 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563244618 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563244629 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563244807 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563245191 KRIT1 Health Risk Likely pathogenic —
RS1563245290 KRIT1 Health Risk Pathogenic —
RS1563245596 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563263366 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563263545 KRIT1 Health Risk Likely pathogenic —
RS1563263604 KRIT1 Health Risk Likely pathogenic —
RS1563263905 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563264033 KRIT1 Health Risk Likely pathogenic —
RS1563264113 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563265838 KRIT1 Health Risk Likely pathogenic —
RS1563265959 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563266147 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563266163 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563266256 KRIT1 Health Risk Likely pathogenic —
RS1563266277 KRIT1 Health Risk Likely pathogenic —
RS1563266658 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563266994 KRIT1 Health Risk Likely pathogenic —
RS1563267100 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS1563267767 STAR Health Risk Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
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