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: rs387907283
rs387907283
SMAD6
1 1.000 15 66781495 missense variant G/A;T snv 4.7E-06; 4.7E-06 7.0E-06 0.800 0
dbSNP: rs387907284
rs387907284
SMAD6
1 1.000 15 66781288 missense variant C/G;T snv 8.6E-06 0.800 0
dbSNP: rs104894382
rs104894382
TBX5
4 0.925 0.120 12 114385522 missense variant G/A snv 0.700 1.000 7 1998 2015
dbSNP: rs104894378
rs104894378
TBX5
6 0.882 0.120 12 114385521 missense variant C/G;T snv 0.700 1.000 6 1997 2010
dbSNP: rs886041247
rs886041247
TBX5
2 0.925 0.120 12 114394817 stop gained G/C;T snv 0.700 1.000 5 1997 2007
dbSNP: rs1555225344
rs1555225344
TBX5
2 0.925 0.120 12 114385563 missense variant G/A snv 0.700 1.000 2 2003 2005
dbSNP: rs1565923835
rs1565923835
TBX5
1 1.000 12 114355985 stop gained G/C snv 0.700 1.000 2 2006 2014
dbSNP: rs1565941072
rs1565941072
TBX5
1 1.000 12 114398722 splice acceptor variant T/C snv 0.700 1.000 2 2005 2006
dbSNP: rs863223788
rs863223788
TBX5
2 0.925 0.120 12 114366312 stop gained G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1057520136
rs1057520136
TBX5
1 1.000 12 114398627 frameshift variant G/- del 0.700 0
dbSNP: rs1060503154
rs1060503154
TBX5
1 1.000 12 114398640 stop gained C/T snv 0.700 0
dbSNP: rs1246889300
rs1246889300
SMAD6
2 0.925 0.080 15 66703300 stop gained G/A;C;T snv 9.7E-06 0.700 0
dbSNP: rs1555225989
rs1555225989
TBX5
1 1.000 12 114394771 frameshift variant -/AACG delins 0.700 0
dbSNP: rs1555226005
rs1555226005
TBX5
1 1.000 12 114394808 frameshift variant -/T delins 0.700 0
dbSNP: rs1555226322
rs1555226322
TBX5
1 1.000 12 114398650 frameshift variant -/G delins 0.700 0
dbSNP: rs1555226420
rs1555226420
TBX5
1 1.000 12 114399596 frameshift variant -/C delins 0.700 0
dbSNP: rs1565927747
rs1565927747
TBX5
2 0.925 0.120 12 114366279 stop gained G/A snv 0.700 0
dbSNP: rs1565941046
rs1565941046
TBX5
1 1.000 12 114398693 frameshift variant G/- delins 0.700 0
dbSNP: rs1567092071
rs1567092071
SMAD6
2 0.925 0.080 15 66704052 frameshift variant A/- del 0.700 0
dbSNP: rs878853750
rs878853750
TBX5
1 1.000 12 114366189 frameshift variant T/- delins 0.700 0