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: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs17725712
rs17725712
CSF1R
1 1.000 0.080 5 150111245 intron variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs4147385
rs4147385
MAPK9
1 1.000 0.080 5 180250517 intron variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs387906429
rs387906429
F8
1 1.000 0.080 X 154991304 intron variant C/T snv 1.9E-05 0.700 0
dbSNP: rs1982037
rs1982037 		1 1.000 0.080 18 40854820 intergenic variant C/T snv 0.11 0.010 < 0.001 1 2018 2018
dbSNP: rs137852414
rs137852414
F8
2 0.925 0.080 X 154961120 stop gained C/A;T snv 0.800 1.000 22 1989 2013
dbSNP: rs137852426
rs137852426
F8
1 1.000 0.080 X 154953983 stop gained C/G;T snv 0.800 1.000 22 1989 2013
dbSNP: rs137852439
rs137852439
F8
1 1.000 0.080 X 154928647 stop gained G/A;C;T snv 0.800 1.000 22 1989 2013
dbSNP: rs28933668
rs28933668
F8
1 1.000 0.080 X 154966522 stop gained G/A;T snv 0.800 1.000 22 1989 2013
dbSNP: rs34371500
rs34371500
F8
1 1.000 0.080 X 154969518 stop gained C/A;T snv 0.800 1.000 22 1989 2013
dbSNP: rs1388356765
rs1388356765
F8
1 1.000 0.080 X 154993116 stop gained C/A;T snv 0.700 1.000 20 1989 2002
dbSNP: rs137852355
rs137852355
F8
1 1.000 0.080 X 154861759 stop gained G/A;C snv 0.800 1.000 2 2011 2013
dbSNP: rs137852373
rs137852373
F8
1 1.000 0.080 X 154928623 stop gained C/A;T snv 0.800 1.000 2 2011 2013
dbSNP: rs1060499784
rs1060499784
F8
1 1.000 0.080 X 154930646 stop gained C/T snv 0.700 0
dbSNP: rs137852354
rs137852354
F8
1 1.000 0.080 X 154837677 stop gained G/A snv 0.700 0
dbSNP: rs137852356
rs137852356
F8
1 1.000 0.080 X 154896103 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs137852357
rs137852357
F8
1 1.000 0.080 X 154863161 stop gained G/A snv 0.700 0
dbSNP: rs137852361
rs137852361
F8
1 1.000 0.080 X 154928677 stop gained G/A;C snv 5.6E-06 0.700 0
dbSNP: rs137852363
rs137852363
F8
1 1.000 0.080 X 154904026 stop gained G/A;T snv 3.3E-05 0.700 0
dbSNP: rs137852368
rs137852368
F8
1 1.000 0.080 X 154966634 stop gained G/A;T snv 5.5E-06 0.700 0
dbSNP: rs137852372
rs137852372
F8
1 1.000 0.080 X 154966077 stop gained G/A snv 0.700 0
dbSNP: rs137852408
rs137852408
F8
1 1.000 0.080 X 154966671 stop gained A/T snv 0.700 0
dbSNP: rs137852421
rs137852421
F8
1 1.000 0.080 X 154956983 stop gained C/A snv 0.700 0
dbSNP: rs137852424
rs137852424
F8
2 0.925 0.080 X 154953991 stop gained G/A;T snv 1.1E-05 0.700 0
dbSNP: rs137852432
rs137852432
F8
1 1.000 0.080 X 154947846 stop gained G/C snv 0.700 0