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: rs121434226
rs121434226
IRF6
3 0.882 0.320 1 209796477 missense variant G/A snv 0.700 1.000 4 2008 2014
dbSNP: rs1553247595
rs1553247595
IRF6
3 0.882 0.320 1 209788590 stop gained G/A snv 0.700 1.000 4 2002 2015
dbSNP: rs1553247774
rs1553247774
IRF6
3 0.882 0.320 1 209790806 missense variant C/T snv 0.700 1.000 4 2002 2010
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: rs1558038218
rs1558038218
IRF6
3 0.882 0.320 1 209788500 frameshift variant GGTACAGCTGC/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1185412313
rs1185412313
IRF6
2 0.925 0.200 1 209789740 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs28942094
rs28942094
IRF6
4 0.851 0.400 1 209801398 missense variant G/A snv 0.700 0