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 0.800 1.000 13 1997 2011
dbSNP: rs104894381
rs104894381
TBX5
5 0.925 0.120 12 114401830 missense variant C/T snv 0.800 1.000 7 1997 2010
dbSNP: rs104894382
rs104894382
TBX5
4 0.925 0.120 12 114385522 missense variant G/A snv 0.800 1.000 7 1997 2010
dbSNP: rs104894383
rs104894383
TBX5
1 1.000 0.120 12 114403754 missense variant G/T snv 7.0E-06 0.800 1.000 7 1997 2010
dbSNP: rs104894384
rs104894384
TBX5
1 1.000 0.120 12 114401907 missense variant A/G snv 0.800 1.000 7 1997 2010
dbSNP: rs104894377
rs104894377
TBX5
1 1.000 0.120 12 114401863 stop gained C/A snv 0.710 1.000 1 2004 2004
dbSNP: rs863223792
rs863223792
TGFB2
2 0.925 0.120 1 218436110 missense variant C/T snv 0.700 1.000 3 2012 2016
dbSNP: rs1553292145
rs1553292145
TGFB2 ; TGFB2-AS1
1 1.000 0.120 1 218347048 splice donor variant G/A;T snv 0.700 1.000 2 2012 2012
dbSNP: rs1553303161
rs1553303161
TGFB2
1 1.000 0.120 1 218435965 splice acceptor variant TCAA/G delins 0.700 1.000 2 2012 2012
dbSNP: rs869312903
rs869312903
TGFB2
3 0.882 0.120 1 218436119 missense variant C/A;T snv 0.700 1.000 2 2012 2015
dbSNP: rs1057516042
rs1057516042
TBX5
2 1.000 0.120 12 114403794 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs869025531
rs869025531
TGFB2
2 0.925 0.120 1 218405213 stop gained C/T snv 0.700 1.000 1 2013 2013
dbSNP: rs104894379
rs104894379
TBX5
2 1.000 0.120 12 114398675 stop gained G/A;C;T snv 0.700 0
dbSNP: rs1064795870
rs1064795870
TBX5
1 1.000 0.120 12 114355931 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1553292112
rs1553292112
TGFB2 ; TGFB2-AS1
1 1.000 0.120 1 218346951 frameshift variant -/G delins 0.700 0
dbSNP: rs1553303203
rs1553303203
TGFB2
1 1.000 0.120 1 218436107 frameshift variant CGGCGGAAGA/- del 0.700 0
dbSNP: rs1555225344
rs1555225344
TBX5
2 0.925 0.120 12 114385563 missense variant G/A snv 0.700 0
dbSNP: rs1555226301
rs1555226301
TBX5
1 1.000 0.120 12 114398568 splice region variant C/G;T snv 0.700 0
dbSNP: rs1555226315
rs1555226315
TBX5
4 0.925 0.120 12 114398639 stop gained C/T snv 0.700 0
dbSNP: rs1555226575
rs1555226575
TBX5
1 1.000 0.120 12 114401821 splice region variant C/A;T snv 0.700 0
dbSNP: rs1565923488
rs1565923488
TBX5
1 1.000 0.120 12 114355743 frameshift variant T/- del 0.700 0
dbSNP: rs1565923537
rs1565923537
TBX5
1 1.000 0.120 12 114355786 frameshift variant G/- delins 0.700 0
dbSNP: rs1565923863
rs1565923863
TBX5
1 1.000 0.120 12 114356015 frameshift variant A/- del 0.700 0
dbSNP: rs1565923887
rs1565923887
TBX5
1 1.000 0.120 12 114356044 stop gained C/A snv 0.700 0
dbSNP: rs1565923899
rs1565923899
TBX5
1 1.000 0.120 12 114356053 frameshift variant -/GT delins 0.700 0