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
RS386833585 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833586 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS386833587 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS386833588 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833589 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS386833590 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833591 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833594 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833596 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833597 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833598 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Hyperornithinemia
RS386833599 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833600 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833601 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Hyperornithinemia
RS386833602 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833603 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, OAT-related disorder
RS386833604 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833605 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833606 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833607 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833608 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833609 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833610 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833611 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833612 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Retinal dystrophy
RS386833613 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833614 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Hyperornithinemia
RS386833615 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833616 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833617 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833618 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833619 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833620 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833621 OAT Health Risk Pathogenic/Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833622 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833623 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS386833624 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833625 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833626 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833627 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833628 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833629 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833630 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833631 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833632 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833633 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833634 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833635 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833636 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833637 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833638 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833639 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833640 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833641 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833642 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833643 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833644 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833645 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833646 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833647 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833648 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833649 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833650 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833651 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833652 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833653 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833654 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833655 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases
RS386833656 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833657 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833658 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833659 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833660 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833661 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833662 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833663 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833664 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833665 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis
RS386833666 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833667 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833668 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833669 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833670 PPT1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833671 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS386833672 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS386833673 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS386833674 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS386833675 AIRE Health Risk Pathogenic/Likely pathogenic Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia
RS386833676 CHM Health Risk Pathogenic Choroideremia, Salla type
RS386833677 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Neurodevelopmental delay
RS386833678 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833679 AMT Health Risk Likely pathogenic Glycine encephalopathy, See cases
RS386833680 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS386833681 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833682 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS386833683 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Neurodevelopmental delay
RS386833684 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS386833685 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS386833686 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS386833687 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
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