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: rs3917643
rs3917643
F3
1 1.000 0.040 1 94536311 intron variant T/C snv 3.9E-02 0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4147929
rs4147929
3 0.882 0.120 19 1063444 intron variant A/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs4717806
rs4717806
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs4782371
rs4782371
3 1.000 0.040 16 88502423 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs4988235
rs4988235
19 0.752 0.400 2 135851076 intron variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs6742078
rs6742078
13 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.010 1.000 1 2013 2013
dbSNP: rs6749704
rs6749704
5 0.827 0.240 2 227813126 intron variant T/C snv 0.24 0.010 < 0.001 1 2016 2016
dbSNP: rs6834314
rs6834314
10 0.807 0.160 4 87292656 intergenic variant A/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs6921438
rs6921438
10 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs6993770
rs6993770
9 0.925 0.080 8 105569300 intron variant A/T snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs7043199
rs7043199
2 1.000 0.040 9 2621145 intron variant T/A snv 0.18 0.010 1.000 1 2017 2017
dbSNP: rs753152
rs753152
6 0.882 0.160 17 42761487 intron variant T/G snv 0.12 0.010 < 0.001 1 2017 2017
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs7944926
rs7944926
7 0.807 0.200 11 71454579 intron variant A/G snv 0.54 0.010 1.000 1 2015 2015
dbSNP: rs872129
rs872129
2 0.925 0.080 1 203200263 intergenic variant A/G snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs884164
rs884164
2 0.925 0.040 19 4521613 upstream gene variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2008 2008
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 2002 2018
dbSNP: rs750249283
rs750249283
2 0.925 0.080 21 42296256 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs33918808
rs33918808
1 1.000 0.040 9 104817351 missense variant C/G;T snv 3.5E-02; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1320702652
rs1320702652
11 0.752 0.160 15 43824536 missense variant G/A snv 4.0E-06 0.030 1.000 3 2003 2014
dbSNP: rs33972313
rs33972313
8 0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02 0.010 1.000 1 2015 2015