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: rs1008949
rs1008949
1 1.000 0.040 8 22696108 intron variant T/A;C;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs1049255
rs1049255
9 0.776 0.320 16 88643329 3 prime UTR variant C/T snv 0.49 0.48 0.010 < 0.001 1 2017 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 < 0.001 1 2012 2012
dbSNP: rs113129609
rs113129609
2 0.925 0.080 2 112778091 missense variant A/G snv 0.010 < 0.001 1 2003 2003
dbSNP: rs11572103
rs11572103
4 0.851 0.120 10 95058349 missense variant T/A snv 1.6E-02 4.9E-02 0.010 < 0.001 1 2007 2007
dbSNP: rs12040273
rs12040273
3 0.882 0.040 1 230063651 intron variant C/T snv 0.28 0.010 < 0.001 1 2018 2018
dbSNP: rs12567209
rs12567209
6 0.807 0.080 1 162066689 upstream gene variant G/A snv 8.6E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs1344231640
rs1344231640
1 1.000 0.040 15 99712576 missense variant G/T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs141680676
rs141680676
1 1.000 0.040 7 80663151 synonymous variant A/C;G;T snv 1.5E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs143150225
rs143150225
1 1.000 0.040 7 80663132 missense variant C/T snv 3.1E-04 2.5E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs145302848
rs145302848
2 1.000 0.040 5 177093265 synonymous variant C/G snv 2.0E-05 7.0E-05 0.010 < 0.001 1 2012 2012
dbSNP: rs150629733
rs150629733
4 0.851 0.080 3 148741190 missense variant T/C;G snv 4.0E-06; 8.8E-05 0.010 < 0.001 1 1999 1999
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.010 < 0.001 1 2016 2016
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 < 0.001 1 2018 2018
dbSNP: rs16847548
rs16847548
8 0.807 0.120 1 162065484 upstream gene variant T/C snv 0.22 0.010 < 0.001 1 2009 2009
dbSNP: rs2015086
rs2015086
4 0.882 0.040 17 36064257 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2009 2009
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs216311
rs216311
VWF
7 0.882 0.040 12 6019277 missense variant T/A;C snv 4.0E-06; 0.69 0.010 < 0.001 1 2012 2012
dbSNP: rs2230774
rs2230774
12 0.807 0.240 2 11218994 missense variant G/C;T snv 0.49 0.010 < 0.001 1 2013 2013
dbSNP: rs2234714
rs2234714
1 1.000 0.040 21 42218507 intron variant G/A snv 0.33 0.010 < 0.001 1 2011 2011
dbSNP: rs2277680
rs2277680
10 0.776 0.160 17 4735268 missense variant G/A snv 0.47 0.41 0.010 < 0.001 1 2011 2011
dbSNP: rs243865
rs243865
48 0.600 0.640 16 55477894 intron variant C/T snv 0.19 0.010 < 0.001 1 2014 2014
dbSNP: rs2453021
rs2453021
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2526378
rs2526378
2 0.925 0.120 17 58326988 intron variant A/G snv 0.51 0.010 < 0.001 1 2018 2018
dbSNP: rs2569190
rs2569190
39 0.620 0.560 5 140633331 intron variant A/G snv 0.57 0.010 < 0.001 1 2018 2018