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: rs10516487
rs10516487
11 0.752 0.360 4 101829919 missense variant G/A;T snv 0.26; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2014
dbSNP: rs2069762
rs2069762
IL2
23 0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24 0.010 < 0.001 1 2018 2018
dbSNP: rs4833248
rs4833248
1 1.000 0.080 4 122459250 upstream gene variant G/A;C snv 0.010 < 0.001 1 2018 2018
dbSNP: rs3754689
rs3754689
LCT
2 0.925 0.080 2 135833176 missense variant C/A;G;T snv 4.8E-05; 0.24 0.010 1.000 1 2020 2020
dbSNP: rs387906475
rs387906475
F9
3 0.882 0.080 X 139530843 missense variant G/A snv 0.010 1.000 1 1989 1989
dbSNP: rs137852228
rs137852228
F9
2 0.925 0.080 X 139537145 missense variant G/A snv 5.5E-06 0.700 1.000 1 2019 2019
dbSNP: rs137852238
rs137852238
F9
2 0.925 0.080 X 139551113 missense variant G/A snv 5.5E-06 9.5E-06 0.700 1.000 1 2019 2019
dbSNP: rs137852247
rs137852247
F9
3 0.925 0.080 X 139560852 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs137852249
rs137852249
F9
3 0.882 0.080 X 139561566 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs772061412
rs772061412
F9
2 0.925 0.080 X 139561664 missense variant C/G snv 5.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs137852254
rs137852254
F9
3 0.882 0.080 X 139561710 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs137852257
rs137852257
F9
2 0.925 0.080 X 139561754 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs137852259
rs137852259
F9
2 0.925 0.080 X 139561821 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs17725712
rs17725712
1 1.000 0.080 5 150111245 intron variant C/T snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs1557271042
rs1557271042
F8
1 1.000 0.080 X 154837622 missense variant C/T snv 0.700 0
dbSNP: rs137852360
rs137852360
F8
2 0.925 0.080 X 154837676 missense variant C/A;G;T snv 0.800 1.000 2 2011 2013
dbSNP: rs137852354
rs137852354
F8
1 1.000 0.080 X 154837677 stop gained G/A snv 0.700 0
dbSNP: rs137852474
rs137852474
F8
1 1.000 0.080 X 154837685 missense variant C/G;T snv 0.800 1.000 22 1989 2013
dbSNP: rs137852473
rs137852473
F8
1 1.000 0.080 X 154837686 missense variant G/A;C snv 0.800 1.000 22 1989 2013
dbSNP: rs137852472
rs137852472
F8
2 0.925 0.080 X 154837697 missense variant G/A snv 0.800 1.000 22 1989 2013
dbSNP: rs137852374
rs137852374
F8
1 1.000 0.080 X 154837698 missense variant G/A snv 5.5E-06 0.810 1.000 3 2009 2013
dbSNP: rs387906466
rs387906466
F8
1 1.000 0.080 X 154837735 frameshift variant GATTT/- delins 0.700 0
dbSNP: rs137852471
rs137852471
F8
1 1.000 0.080 X 154860467 stop gained G/A snv 0.700 0
dbSNP: rs782717799
rs782717799
F8
1 1.000 0.080 X 154860497 missense variant A/T snv 5.5E-06 0.700 1.000 20 1989 2002