Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894378
rs104894378
TBX5
6 0.882 0.120 12 114385521 missense variant C/G;T snv 0.020 1.000 2 1999 2001
dbSNP: rs104894381
rs104894381
TBX5
5 0.925 0.120 12 114401830 missense variant C/T snv 0.020 1.000 2 1999 2001
dbSNP: rs104894382
rs104894382
TBX5
4 0.925 0.120 12 114385522 missense variant G/A snv 0.010 1.000 1 1999 1999
dbSNP: rs1357988739
rs1357988739
HPGDS
1 4 94308735 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001