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: rs121908029
rs121908029
13 0.763 0.200 19 11105588 stop gained G/A;C;T snv 1.6E-05; 1.6E-05; 8.1E-06 0.700 0
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs1554810066
rs1554810066
4 0.925 0.160 9 127824414 frameshift variant ATCGGTGCGG/- delins 0.700 0
dbSNP: rs1555517253
rs1555517253
4 0.925 0.200 16 16198019 splice acceptor variant CCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTG/- delins 0.700 0
dbSNP: rs1568362252
rs1568362252
1 19 15192490 missense variant C/T snv 0.700 0
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs28933696
rs28933696
5 0.882 0.160 19 15192134 missense variant G/A snv 0.700 0
dbSNP: rs63749796
rs63749796
9 0.925 0.200 16 16159505 missense variant C/G snv 0.700 0
dbSNP: rs63751241
rs63751241
12 0.882 0.280 16 16154638 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs72664204
rs72664204
9 0.925 0.200 16 16203407 splice donor variant AC/- delins 4.0E-06 2.1E-05 0.700 0
dbSNP: rs72664207
rs72664207
6 0.882 0.240 16 16185039 splice region variant A/C snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs754360599
rs754360599
5 0.925 0.200 16 16190334 missense variant G/A snv 2.0E-05 1.1E-04 0.700 0
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.020 < 0.001 2 2016 2019
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.020 < 0.001 2 2013 2017
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.010 < 0.001 1 2014 2014
dbSNP: rs1492099
rs1492099
5 0.882 0.120 3 148719716 intron variant T/A;C snv 0.89 0.010 < 0.001 1 2020 2020
dbSNP: rs17228212
rs17228212
8 0.807 0.160 15 67166301 intron variant T/C snv 0.21 0.010 < 0.001 1 2013 2013
dbSNP: rs1906591
rs1906591
5 0.851 0.200 4 110787733 intergenic variant G/A snv 0.15 0.010 < 0.001 1 2014 2014
dbSNP: rs201058276
rs201058276
F7
11 0.776 0.240 13 113118731 missense variant G/A;C snv 4.8E-05; 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs2043211
rs2043211
29 0.653 0.480 19 48234449 missense variant A/T snv 0.33 0.29 0.010 < 0.001 1 2015 2015
dbSNP: rs2075820
rs2075820
10 0.790 0.200 7 30452621 missense variant C/T snv 0.27 0.28 0.010 < 0.001 1 2009 2009
dbSNP: rs243832
rs243832
1 16 55505279 intron variant C/G snv 0.50 0.010 < 0.001 1 2018 2018
dbSNP: rs275653
rs275653
5 0.882 0.120 3 148697758 upstream gene variant A/G snv 0.20 0.010 < 0.001 1 2020 2020
dbSNP: rs35829419
rs35829419
23 0.689 0.560 1 247425556 missense variant C/A snv 3.9E-02 3.3E-02 0.010 < 0.001 1 2015 2015