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: rs121434227
rs121434227
IRF6
1 1.000 0.240 1 209796476 missense variant C/A;T snv 0.810 1.000 4 2002 2010
dbSNP: rs387906968
rs387906968
IRF6
1 1.000 0.240 1 209788553 missense variant G/A snv 0.810 1.000 4 2002 2010
dbSNP: rs121434226
rs121434226
IRF6
3 0.882 0.320 1 209796477 missense variant G/A snv 0.800 1.000 7 2002 2014
dbSNP: rs387906967
rs387906967
IRF6
2 0.925 0.320 1 209801349 missense variant A/G snv 0.800 1.000 4 2002 2010
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: rs121434225
rs121434225
IRF6
1 1.000 0.240 1 209789669 stop gained G/A snv 0.700 0
dbSNP: rs121434231
rs121434231
IRF6
2 0.925 0.320 1 209790539 missense variant C/A snv 0.700 0
dbSNP: rs28942094
rs28942094
IRF6
4 0.851 0.400 1 209801398 missense variant G/A snv 0.700 0
dbSNP: rs886038202
rs886038202
IRF6
1 1.000 0.240 1 209788508 missense variant A/G snv 0.700 0
dbSNP: rs2235375
rs2235375
IRF6
7 0.807 0.400 1 209792242 intron variant G/A;C;T snv 3.2E-05; 0.41; 4.3E-04 0.010 1.000 1 2015 2015
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2014 2014
dbSNP: rs7552506
rs7552506
IRF6
2 0.925 0.240 1 209796557 splice region variant G/C snv 0.32 0.32 0.010 1.000 1 2015 2015
dbSNP: rs80338851
rs80338851
B3GLCT
3 0.882 0.320 13 31269278 splice donor variant G/A snv 7.0E-04 8.1E-04 0.010 1.000 1 2019 2019