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
RS2486089007 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS2486089063 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486089519 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2486090280 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486090402 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486090632 KCNH2 Health Risk Pathogenic KCNH2-related disorder, KCNH2-related disorder
RS2486090850 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486091720 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486092205 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486092417 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486092738 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2486093867 CUX1 Health Risk Pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2486093998 CUX1 Health Risk Pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2486094069 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486094081 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486094162 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486094630 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 2
RS2486095296 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486097207 CAMK2B Health Risk Likely pathogenic —
RS2486099939 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486099963 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS2486100894 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486102241 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486102360 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486102603 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486102657 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2486105368 MCPH1 Health Risk Pathogenic —
RS2486105584 MCPH1 Health Risk Pathogenic —
RS2486112288 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486112668 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486112694 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486112725 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486113704 CCM2 Health Risk Likely pathogenic CCM2-related disorder, CCM2-related disorder
RS2486113917 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486114662 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486114850 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS2486114892 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486114991 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486115109 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486116981 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486117018 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486117181 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486117269 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486117611 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486117732 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486118586 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486118857 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486120240 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486123093 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486123194 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486126464 FIG4 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 11, Amyotrophic lateral sclerosis type 11
RS2486126620 FIG4 Health Risk Likely pathogenic Bilateral parasagittal parieto-occipital polymicrogyria, Bilateral parasagittal parieto-occipital polymicrogyria
RS2486126656 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486126897 FIG4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4J, Charcot-Marie-Tooth disease type 4J
RS2486128874 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS2486128952 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486129744 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486129782 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486131876 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486132701 FIG4 Health Risk Likely pathogenic —
RS2486133348 MCPH1 Health Risk Pathogenic —
RS2486133638 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486133665 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486133707 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486133745 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486133805 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486133812 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486134236 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486134386 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486135403 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486135424 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486137594 MCPH1 Health Risk Pathogenic —
RS2486137868 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486137994 MCPH1 Health Risk Pathogenic —
RS2486140026 MCPH1 Health Risk Likely pathogenic —
RS2486140241 MCPH1 Health Risk Pathogenic —
RS2486140778 MCPH1 Health Risk Pathogenic —
RS2486144218 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486144482 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486144500 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486144656 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2486145830 MCPH1 Health Risk Pathogenic —
RS2486146751 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486146809 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486146890 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486147571 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486147588 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486147617 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486147622 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486147767 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486147879 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486147890 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486147898 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486147926 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS2486148789 TFR2 Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2486148819 TFR2 Health Risk Likely pathogenic Hemochromatosis type 3, Hemochromatosis type 3
RS2486153684 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2486155350 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486155587 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486155801 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
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