rs104894382, TBX5

N. diseases: 4
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.
Holt-Oram syndrome
CUI: C0265264
Disease: Holt-Oram syndrome
69 0.925 0.120 12 114385522 missense variant G/A snv 0.800 1.000 7 1997 2010
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
20 0.925 0.120 12 114385522 missense variant G/A snv 0.700 1.000 7 1998 2015
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.925 0.120 12 114385522 missense variant G/A snv 0.010 1.000 1 1999 1999
Limb Deformities, Congenital
CUI: C0206762
Disease: Limb Deformities, Congenital
4 0.925 0.120 12 114385522 missense variant G/A snv 0.010 1.000 1 1999 1999