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
RS386833688 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833689 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833690 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS386833692 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833693 GLE1 Health Risk Pathogenic Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS386833694 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833695 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833696 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833697 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833698 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833699 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833700 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833701 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833702 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833703 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833704 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833705 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833706 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Malignant tumor of urinary bladder
RS386833707 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833708 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833709 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833710 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833712 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833713 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833714 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833715 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833717 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833720 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833721 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833722 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833724 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833725 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833726 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833727 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833728 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Retinal dystrophy
RS386833729 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833730 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833731 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833732 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833735 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833736 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833737 CLN3 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833738 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 3, Ceroid lipofuscinosis
RS386833739 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833740 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833741 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833742 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833743 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS386833744 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS386833745 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS386833746 CC2D2A Health Risk Likely pathogenic Meckel syndrome, type 6
RS386833747 CC2D2A Health Risk Likely pathogenic Meckel syndrome, type 6
RS386833748 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS386833749 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS386833750 CC2D2A Health Risk Conflicting classifications of pathogenicity COACH syndrome 2, Joubert syndrome 9/15
RS386833751 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS386833752 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS386833753 CC2D2A Health Risk Likely pathogenic Meckel syndrome, type 6
RS386833754 CC2D2A Health Risk Likely pathogenic Meckel syndrome, type 6
RS386833755 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 6
RS386833756 CC2D2A Health Risk Likely pathogenic Meckel syndrome, type 6
RS386833757 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS386833759 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS386833760 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS386833762 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS386833763 CC2D2A Health Risk Pathogenic Meckel syndrome, type 6
RS386833765 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 6
RS386833766 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS386833767 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833768 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833769 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833770 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833771 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS386833772 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833773 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833774 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833775 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS386833776 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833777 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS386833778 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS386833779 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833780 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833781 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Proteinuria
RS386833782 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS386833783 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833784 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833785 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Inborn genetic diseases
RS386833786 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833787 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833788 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833789 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833790 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833791 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS386833792 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833793 SLC7A7 Health Risk Conflicting classifications of pathogenicity Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833794 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833796 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833797 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833798 SLC7A7 Health Risk Pathogenic/Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS386833799 SLC7A7 Health Risk Likely pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
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