Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894378
rs104894378
TBX5
0.882 0.120 12 114385521 missense variant C/G;T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 1999 1999
dbSNP: rs104894381
rs104894381
TBX5
0.925 0.120 12 114401830 missense variant C/T snv
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 1.000 1 1999 1999