rs1556165162, HDAC8

N. diseases: 7
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.
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
CORNELIA DE LANGE SYNDROME 5
CUI: C3550903
Disease: CORNELIA DE LANGE SYNDROME 5
26 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
Overweight
CUI: C0497406
Disease: Overweight
3 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0
Tetralogy of Fallot
CUI: C0039685
Disease: Tetralogy of Fallot
83 0.882 0.120 X 72572657 frameshift variant GG/- delins 0.700 0