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
RS2493486780 PRF1 Health Risk Pathogenic/Likely pathogenic Aplastic anemia, Aplastic anemia
RS2493486847 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493486879 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2493487050 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493487397 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493487405 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493487527 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493487679 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493487714 PRF1 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS2493487768 PRF1 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS2493490046 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS2493493297 RBM20 Health Risk Likely pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493495479 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS2493499292 CFAP43 Health Risk Likely pathogenic CFAP43-related disorder, CFAP43-related disorder
RS2493501187 KCNK18 Health Risk Pathogenic Migraine, with or without aura
RS2493512800 IKZF5 Health Risk Likely pathogenic Thrombocytopenia 7, Thrombocytopenia 7
RS2493522697 CDH23 Health Risk Likely pathogenic —
RS2493522763 IKZF5 Health Risk Likely pathogenic Thrombocytopenia 7, Thrombocytopenia 7
RS2493527151 SLC18A2 Health Risk Pathogenic —
RS2493529639 SLC18A2 Health Risk Pathogenic Brain dopamine-serotonin vesicular transport disease, Brain dopamine-serotonin vesicular transport disease
RS2493533817 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS2493539512 SLC18A2 Health Risk Pathogenic —
RS2493571476 ANK3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2493575727 PDZD8 Health Risk Pathogenic Intellectual developmental disorder with autism and dysmorphic facies, Intellectual developmental disorder with autism and dysmorphic facies
RS2493588809 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493591370 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2493591392 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493591404 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2493591578 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493591772 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493591808 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493591875 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493591982 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS2493592065 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592155 PTEN Health Risk Likely pathogenic Glioma susceptibility 2, Glioma susceptibility 2
RS2493592188 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493592219 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592237 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592290 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592307 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592313 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592369 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493592402 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS2493592471 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493592528 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592611 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493592637 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493626854 TWNK Health Risk Likely pathogenic TWNK-related disorder, TWNK-related disorder
RS2493627848 EBF3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2493627989 EBF3 Health Risk Pathogenic —
RS2493628798 TWNK Health Risk Pathogenic —
RS2493633263 TWNK Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS2493636610 TWNK Health Risk Pathogenic —
RS2493637173 TWNK Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS2493637870 TUBGCP2 Health Risk Pathogenic Pachygyria, microcephaly
RS2493637951 MPDZ Health Risk Pathogenic —
RS2493642124 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS2493642676 TWNK Health Risk Pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS2493642739 MPDZ Health Risk Pathogenic —
RS2493648077 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493648182 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493648196 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493648490 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493648700 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493648782 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493648846 ACADSB Health Risk Pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS2493648970 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493648977 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493648999 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Cowden syndrome 1
RS2493649065 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493649110 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493649119 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493649127 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2493649217 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2493649245 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2493660060 ACADSB Health Risk Likely pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS2493662614 ODAD2 Health Risk Likely pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS2493665132 ACADSB Health Risk Likely pathogenic ACADSB-related disorder, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS2493667489 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2493667554 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2493667659 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2493667802 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493668059 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493669717 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493669942 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493671563 KCNQ1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2493671585 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493673735 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493673906 KCNQ1 Health Risk Likely pathogenic —
RS2493674575 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS2493681122 EBF3 Health Risk Pathogenic —
RS2493681198 EBF3 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2493684497 EBF3 Health Risk Likely pathogenic EBF3-related disorder, EBF3-related disorder
RS2493686781 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2493689253 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2493695719 KCNQ1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2493695956 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2493696044 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2493696301 KCNQ1 Health Risk Likely pathogenic Long QT syndrome 1, Long QT syndrome 1
RS2493697101 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
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