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: rs7053448
rs7053448
F8
2 0.925 0.120 X 154964936 intron variant T/C snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs7058826
rs7058826
F8
2 0.925 0.120 X 154966714 intron variant C/T snv 0.12 0.14 0.010 1.000 1 2015 2015
dbSNP: rs17507066
rs17507066
CHEK2
2 0.925 0.120 22 28696732 intron variant C/T snv 7.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs9609538
rs9609538
RTCB ; BPIFC
2 0.925 0.120 22 32413845 upstream gene variant T/C snv 0.34 0.010 1.000 1 2014 2014
dbSNP: rs561841834
rs561841834
COL18A1
2 0.925 0.120 21 45468531 synonymous variant C/T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11696662
rs11696662
PLCG1
2 0.925 0.120 20 41161795 intron variant C/T snv 4.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs67164370
rs67164370
RASSF2
4 0.851 0.120 20 4787830 intron variant -/AGGGACT ins 0.010 1.000 1 2011 2011
dbSNP: rs8170
rs8170
BABAM1 ; USHBP1
13 0.724 0.160 19 17278895 synonymous variant G/A snv 0.15 0.18 0.720 1.000 3 2010 2016
dbSNP: rs1265794840
rs1265794840
ERCC2
6 0.851 0.160 19 45365131 missense variant C/T snv 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 < 0.001 1 2013 2013
dbSNP: rs146314922
rs146314922
NLRP2
2 0.925 0.120 19 54982828 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs1596797
rs1596797
MUC16
2 0.925 0.120 19 8977341 missense variant T/A;C;G snv 2.0E-05; 4.0E-06; 0.74 0.010 < 0.001 1 2011 2011
dbSNP: rs2252673
rs2252673
INSR
3 0.882 0.120 19 7150407 intron variant C/G snv 0.75 0.010 1.000 1 2017 2017
dbSNP: rs3212986
rs3212986
ERCC1 ; CD3EAP
42 0.620 0.400 19 45409478 stop gained C/A;G;T snv 0.29; 4.3E-06; 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs3745546
rs3745546
INSR
2 0.925 0.120 19 7211805 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2014 2014
dbSNP: rs7230264
rs7230264 		1 1.000 0.120 18 27347470 intron variant G/A snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs757210
rs757210
HNF1B
6 0.807 0.160 17 37736525 intron variant C/G;T snv 0.710 1.000 2 2013 2015
dbSNP: rs11651755
rs11651755
HNF1B
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.010 1.000 1 2013 2013
dbSNP: rs16949649
rs16949649
NME1 ; NME1-NME2
12 0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs1799950
rs1799950
BRCA1
13 0.752 0.240 17 43094464 missense variant T/C snv 4.7E-02 4.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs183211
rs183211
NSF ; LRRC37A2
4 0.882 0.160 17 46710944 intron variant G/A snv 0.28 0.30 0.700 1.000 1 2015 2015
dbSNP: rs2302254
rs2302254
NME1 ; NME1-NME2
15 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 0.010 1.000 1 2012 2012
dbSNP: rs372150314
rs372150314
SHMT1
2 0.925 0.120 17 18347596 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs7405776
rs7405776
HNF1B
6 0.807 0.120 17 37733029 intron variant G/A;C snv 0.010 1.000 1 2013 2013