SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS797045652 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS797045654 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS797045655 KIF1A Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 9
RS797045656 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS797045657 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS797045658 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045659 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Inborn genetic diseases
RS797045660 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045661 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS797045662 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045663 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045665 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS797045667 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045668 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045669 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045670 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS797045671 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045672 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS797045673 L1CAM Health Risk Pathogenic X-linked complicated corpus callosum dysgenesis, X-linked hydrocephalus syndrome
RS797045674 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS797045678 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS797045684 LRP2 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS797045688 MAN1B1 Health Risk Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS797045693 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS797045694 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS797045695 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS797045696 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS797045697 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS797045698 MED12 Health Risk Likely pathogenic —
RS797045703 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS797045704 MID1 Health Risk Conflicting classifications of pathogenicity —
RS797045705 MKS1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS797045706 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS797045707 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS797045709 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045711 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045712 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045713 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045714 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045715 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045717 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045718 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045719 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045720 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045721 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045722 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045724 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS797045725 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS797045727 MYH3 Health Risk Likely pathogenic Freeman-Sheldon syndrome, Freeman-Sheldon syndrome
RS797045730 MYH7 Health Risk Conflicting classifications of pathogenicity Myopathy, Hypertrophic cardiomyopathy
RS797045731 MYO5A Health Risk Conflicting classifications of pathogenicity —
RS797045735 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS797045736 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy
RS797045737 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS797045738 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS797045745 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045746 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045747 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045748 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045749 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045750 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045751 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045752 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045753 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045754 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045755 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045756 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045757 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045758 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045760 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045761 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045762 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045763 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045764 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045766 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045767 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045768 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045769 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045770 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045771 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045772 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045773 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045775 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045776 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045778 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045779 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045780 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045781 NIPBL Health Risk Pathogenic —
RS797045783 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045784 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045785 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045786 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045787 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045788 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045789 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS797045790 NKX2-5 Health Risk Pathogenic Abnormal cardiovascular system morphology, Abnormal cardiovascular system morphology
RS797045791 NKX2-5 Health Risk Pathogenic Abnormal cardiovascular system morphology, Atrial septal defect 7
RS797045792 NKX2-5 Health Risk Pathogenic Abnormal cardiovascular system morphology, Atrial septal defect 7
RS797045804 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS797045805 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
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