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
RS1588573831 ENG Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary arterial hypertension
RS1588574496 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1588574709 PTCH1 Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1588574749 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588574943 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588574984 PTCH1 Health Risk Pathogenic Congenital hydrocephalus, Gorlin syndrome
RS1588576911 ENG Health Risk Likely pathogenic —
RS1588576923 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, ENG-related disorder
RS1588577016 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1588577214 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1588578536 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1588578556 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1588578971 COL5A1 Health Risk Pathogenic —
RS1588579347 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1588580782 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588580932 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1588581338 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1588581497 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1588581785 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588581846 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1588581867 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1588581880 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588581902 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588581961 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588582060 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1588582073 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588582594 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1588582666 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1588582695 ENG Health Risk Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1588582860 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1588582870 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588582962 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588583488 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1588583530 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1588583640 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1588585372 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1588585386 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1588585506 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS1588585570 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS1588585880 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1588585941 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1588585997 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
RS1588589663 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1588596702 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588596830 ENG Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1588596879 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1588597744 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1588598613 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1588598651 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS1588598694 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1588598721 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1588600929 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588601051 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1588602262 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1588602354 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1588603014 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588604597 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1588604603 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS1588605348 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1588605485 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588605746 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588608715 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588608794 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588608882 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1588609559 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1588609575 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Basal cell nevus syndrome 1
RS1588609785 PTCH1 Health Risk Likely pathogenic Gorlin syndrome, Gorlin syndrome
RS1588610324 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1588613754 NR5A1 Health Risk Pathogenic —
RS1588614178 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1588615451 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1588615658 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1588616299 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS1588618614 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS1588621711 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1588621944 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS1588622082 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS1588622713 PTCH1 Health Risk Likely pathogenic Congenital hydrocephalus, Congenital hydrocephalus
RS1588634016 CDK5RAP2 Health Risk Pathogenic Microcephaly, Microcephaly
RS1588635717 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1588639188 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1588642071 EHMT1 Health Risk Pathogenic —
RS1588646655 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1588655345 COL27A1 Health Risk Likely pathogenic —
RS1588663203 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS1588680049 DGAT1 Health Risk Likely pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS1588686286 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1588688823 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1588689245 DGAT1 Health Risk Pathogenic Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
RS1588689993 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS1588691694 SURF1 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS1588691786 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, SURF1-related disorder
RS1588693774 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS1588693841 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS1588727276 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1588732344 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1588732590 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1588735247 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1588735834 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS1588736025 VIM Health Risk Likely pathogenic syndrome with premature-aging, syndrome with premature-aging
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