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: rs1553247774
rs1553247774
IRF6
3 0.882 0.320 1 209790806 missense variant C/T snv 0.800 1.000 10 2002 2010
dbSNP: rs121434229
rs121434229
IRF6
2 0.925 0.200 1 209801280 missense variant C/T snv 4.0E-06 0.800 1.000 8 2002 2009
dbSNP: rs121434230
rs121434230
IRF6
2 0.925 0.200 1 209788638 missense variant G/A snv 0.800 1.000 8 2002 2009
dbSNP: rs121434231
rs121434231
IRF6
2 0.925 0.320 1 209790539 missense variant C/A snv 0.800 1.000 8 2002 2009
dbSNP: rs28942093
rs28942093
IRF6
1 1.000 0.200 1 209801409 missense variant G/A snv 0.800 1.000 8 2002 2009
dbSNP: rs28942094
rs28942094
IRF6
4 0.851 0.400 1 209801398 missense variant G/A snv 0.800 1.000 8 2002 2009
dbSNP: rs28942095
rs28942095
IRF6
1 1.000 0.200 1 209788626 missense variant G/A snv 0.800 1.000 8 2002 2009
dbSNP: rs387906967
rs387906967
IRF6
2 0.925 0.320 1 209801349 missense variant A/G snv 0.800 1.000 8 2002 2009
dbSNP: rs776236749
rs776236749
IRF6
1 1.000 0.200 1 209796519 missense variant C/T snv 4.0E-06 0.700 1.000 8 2002 2009
dbSNP: rs1553247595
rs1553247595
IRF6
3 0.882 0.320 1 209788590 stop gained G/A snv 0.700 1.000 5 2002 2015
dbSNP: rs121434226
rs121434226
IRF6
3 0.882 0.320 1 209796477 missense variant G/A snv 0.700 1.000 4 2008 2014
dbSNP: rs1553248641
rs1553248641
IRF6
3 0.882 0.320 1 209801389 missense variant G/A snv 0.700 1.000 3 2004 2017
dbSNP: rs886039388
rs886039388
IRF6
3 0.882 0.320 1 209796501 missense variant G/A snv 0.700 1.000 3 2002 2014
dbSNP: rs769068305
rs769068305
IRF6
1 1.000 0.200 1 209788614 missense variant C/G;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1060499555
rs1060499555
IRF6
3 0.925 0.200 1 209801301 missense variant A/G snv 0.700 0
dbSNP: rs1185412313
rs1185412313
IRF6
2 0.925 0.200 1 209789740 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs121434224
rs121434224
IRF6
1 1.000 0.200 1 209796453 stop gained C/A snv 0.700 0
dbSNP: rs121434228
rs121434228
IRF6
1 1.000 0.200 1 209789709 stop gained C/T snv 0.700 0
dbSNP: rs1553247877
rs1553247877
IRF6
1 1.000 0.200 1 209792277 missense variant G/A snv 0.700 0
dbSNP: rs1553248271
rs1553248271
IRF6
1 1.000 0.200 1 209796495 missense variant T/C snv 0.700 0
dbSNP: rs1553248635
rs1553248635
IRF6
1 1.000 0.200 1 209801294 missense variant C/A snv 0.700 0
dbSNP: rs200166664
rs200166664
IRF6
1 1.000 0.200 1 209788625 missense variant C/A;G;T snv 0.700 0
dbSNP: rs397515434
rs397515434
IRF6
1 1.000 0.200 1 209801269 stop gained G/A snv 0.700 0
dbSNP: rs770938921
rs770938921
GRHL3
1 1.000 0.200 1 24342712 missense variant C/T snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs781506407
rs781506407
IRF6
1 1.000 0.200 1 209790494 splice donor variant C/A;T snv 0.700 0