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: rs562962093
rs562962093
MBL2
13 0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs72661131
rs72661131
MBL2
15 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs549591993
rs549591993
F7
12 0.776 0.400 13 113105794 5 prime UTR variant C/A snv 4.0E-04 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs563558831
rs563558831
CYP2B6
11 0.776 0.320 19 40991226 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs549858786
rs549858786
IL1B
10 0.790 0.320 2 112836807 5 prime UTR variant T/A snv 0.010 1.000 1 2015 2015
dbSNP: rs17231520
rs17231520
CETP
9 0.851 0.240 16 56961915 upstream gene variant G/A snv 2.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs587745372
rs587745372
GJA5 ; LOC102723321
7 0.851 0.240 1 147773383 upstream gene variant T/A snv 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs137852249
rs137852249
F9
3 0.882 0.080 X 139561566 missense variant G/A snv 0.810 1.000 6 1989 2018
dbSNP: rs137852254
rs137852254
F9
3 0.882 0.080 X 139561710 missense variant C/T snv 0.800 1.000 3 1991 2012
dbSNP: rs137852358
rs137852358
F8
3 0.882 0.080 X 154861758 missense variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs371045754
rs371045754
F9
4 0.882 0.200 X 139530726 upstream gene variant A/C snv 5.5E-06 1.9E-05 0.010 1.000 1 2015 2015
dbSNP: rs766182641
rs766182641
AK3
3 0.882 0.080 9 4719292 missense variant A/G snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs387906475
rs387906475
F9
3 0.882 0.080 X 139530843 missense variant G/A snv 0.700 0
dbSNP: rs137852227
rs137852227
F9
2 0.925 0.080 X 139537144 stop gained C/T snv 0.710 1.000 6 1990 2016
dbSNP: rs137852233
rs137852233
F9
2 0.925 0.080 X 139541114 missense variant G/A snv 1.1E-05 3.8E-05 0.800 1.000 5 1989 2013
dbSNP: rs137852228
rs137852228
F9
2 0.925 0.080 X 139537145 missense variant G/A snv 5.5E-06 0.800 1.000 2 2012 2013
dbSNP: rs137852238
rs137852238
F9
2 0.925 0.080 X 139551113 missense variant G/A snv 5.5E-06 9.5E-06 0.800 1.000 2 2012 2013
dbSNP: rs137852259
rs137852259
F9
2 0.925 0.080 X 139561821 missense variant G/A snv 0.800 1.000 2 2012 2013
dbSNP: rs137852360
rs137852360
F8
2 0.925 0.080 X 154837676 missense variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs137852394
rs137852394
F8
2 0.925 0.080 X 154992996 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs137852405
rs137852405
F8
2 0.925 0.080 X 154969405 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs137852414
rs137852414
F8
2 0.925 0.080 X 154961120 stop gained C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs137852416
rs137852416
F8
2 0.925 0.080 X 154957073 missense variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs137852424
rs137852424
F8
2 0.925 0.080 X 154953991 stop gained G/A;T snv 1.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs137852428
rs137852428
F8
2 0.925 0.080 X 154953961 missense variant G/A snv 2.2E-05 9.5E-06 0.700 1.000 1 2019 2019