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: rs71785313
rs71785313
5 0.882 0.120 22 36265996 inframe deletion TTATAA/- delins 0.010 1.000 1 2015 2015
dbSNP: rs60307791
rs60307791
3 1.000 0.040 11 65767714 intron variant TT/-;T;TTT;TTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs886040857
rs886040857
7 0.882 0.240 X 24076757 frameshift variant TCAA/- delins 0.700 0
dbSNP: rs1057515576
rs1057515576
9 0.807 0.280 3 97787991 frameshift variant TAT/GAAAA delins 0.700 0
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 0.667 3 2012 2017
dbSNP: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.030 1.000 3 2003 2009
dbSNP: rs12229654
rs12229654
20 0.763 0.320 12 110976657 intergenic variant T/G snv 4.8E-03 0.010 1.000 1 2014 2014
dbSNP: rs17238540
rs17238540
2 1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02 0.010 1.000 1 2008 2008
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2018 2018
dbSNP: rs1801131
rs1801131
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2012 2012
dbSNP: rs200879349
rs200879349
3 0.925 0.240 1 169468804 missense variant T/G snv 5.2E-05 6.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs52820871
rs52820871
6 0.827 0.160 18 60371599 missense variant T/G snv 6.9E-03 7.6E-03 0.010 1.000 1 2013 2013
dbSNP: rs6136
rs6136
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.010 1.000 1 2007 2007
dbSNP: rs6564851
rs6564851
5 0.882 0.120 16 81230992 intergenic variant T/G snv 0.48 0.010 1.000 1 2009 2009
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: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.010 < 0.001 1 2009 2009
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs9402571
rs9402571
4 0.882 0.080 6 134167822 downstream gene variant T/G snv 0.22 0.010 1.000 1 2008 2008
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.030 1.000 3 2011 2016
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.030 1.000 3 2008 2017
dbSNP: rs1063856
rs1063856
VWF
14 0.763 0.400 12 6044368 missense variant T/C;G snv 0.31 0.010 1.000 1 2000 2000
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 1.000 1 2010 2010
dbSNP: rs147028059
rs147028059
2 1.000 0.080 6 161785807 missense variant T/C;G snv 4.0E-06; 1.6E-05 0.010 1.000 1 2018 2018
dbSNP: rs150179526
rs150179526
2 1.000 0.040 2 162144091 missense variant T/C;G snv 2.7E-03 0.010 < 0.001 1 2002 2002