rs869312741, SMG9

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of cardiovascular system morphology
13 0.882 0.080 19 43747509 frameshift variant GG/- delins 0.700 1.000 1 2016 2016
Brainstem dysplasia
CUI: C1855677
Disease: Brainstem dysplasia
2 0.882 0.080 19 43747509 frameshift variant GG/- delins 0.700 1.000 1 2016 2016
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.080 19 43747509 frameshift variant GG/- delins 0.700 1.000 1 2016 2016
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 19 43747509 frameshift variant GG/- delins 0.700 1.000 1 2016 2016
HEART AND BRAIN MALFORMATION SYNDROME
2 0.882 0.080 19 43747509 frameshift variant GG/- delins 0.700 0