rs104894378, TBX5

N. diseases: 6
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 0.882 0.120 12 114385521 missense variant C/G;T snv 0.800 1.000 13 1997 2011
AORTIC VALVE DISEASE 2
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
20 0.882 0.120 12 114385521 missense variant C/G;T snv 0.700 1.000 6 1997 2010
Limb Deformities, Congenital
CUI: C0206762
Disease: Limb Deformities, Congenital
4 0.882 0.120 12 114385521 missense variant C/G;T snv 0.020 1.000 2 1999 2001
Abnormality of the skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
18 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999
Congenital Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999
Congenital Heart Defects
CUI: C0018798
Disease: Congenital Heart Defects
58 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999