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
RS587783686 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783687 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783688 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783689 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783690 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Inborn genetic diseases
RS587783691 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783692 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS587783693 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783694 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS587783695 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783696 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783697 KMT2D Health Risk Pathogenic Neoplasm, Kabuki syndrome 1
RS587783698 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS587783699 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783700 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783701 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS587783702 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783703 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS587783704 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome 1
RS587783705 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783707 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS587783708 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783711 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783712 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783713 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783714 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783715 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783717 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Inborn genetic diseases
RS587783718 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS587783719 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783723 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783724 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS587783725 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783726 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS587783727 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783728 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS587783729 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS587783731 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, Muscular dystrophy-dystroglycanopathy type B6
RS587783732 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS587783733 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS587783734 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS587783735 MCPH1 Health Risk Pathogenic/Likely pathogenic Microcephaly 1, primary
RS587783736 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS587783739 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS587783741 MCPH1 Health Risk Likely pathogenic Microcephaly 1, primary
RS587783743 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS587783747 MEF2C Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS587783749 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS587783750 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783751 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783752 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783753 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783754 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783755 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Inborn genetic diseases
RS587783756 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783757 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783758 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Nonpapillary renal cell carcinoma
RS587783759 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783760 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783761 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783762 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783763 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783764 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783765 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783766 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783768 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783769 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783770 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783771 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Neurodevelopmental disorder
RS587783772 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Spastic paraplegia
RS587783773 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783774 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783775 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783776 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783777 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783778 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783779 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Nonpapillary renal cell carcinoma
RS587783780 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783781 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Centronuclear myopathy
RS587783782 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783783 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783785 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783786 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783787 MTM1 Health Risk Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783788 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783789 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783791 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, MTM1-related disorder
RS587783792 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783793 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783794 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783795 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783796 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783797 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783798 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783799 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783801 MTM1 Health Risk Conflicting classifications of pathogenicity Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783802 MTM1 Health Risk Pathogenic/Likely pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783803 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783804 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS587783805 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
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