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: rs113092656
rs113092656
5 0.882 0.120 6 11615072 intergenic variant G/A snv 2.6E-02 0.700 1.000 1 2016 2016
dbSNP: rs114209171
rs114209171
5 0.882 0.120 X 155050522 non coding transcript exon variant T/C snv 0.23 0.700 1.000 1 2016 2016
dbSNP: rs121909567
rs121909567
2 0.925 0.120 1 173914570 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs121918156
rs121918156
3 0.882 0.120 2 127427219 missense variant C/T snv 0.700 1.000 1 2019 2019
dbSNP: rs1321566264
rs1321566264
2 0.925 0.120 2 127428522 missense variant C/T snv 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs1487411568
rs1487411568
2 0.925 0.120 1 173903969 missense variant G/A;T snv 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs1553424043
rs1553424043
3 0.925 0.120 2 127423123 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs17490626
rs17490626
5 0.882 0.120 10 69458890 intron variant G/C snv 8.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs1799963
rs1799963
F2
25 0.695 0.400 11 46739505 3 prime UTR variant G/A snv 9.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs34234989
rs34234989
5 0.882 0.120 20 35186731 intron variant A/- delins 0.40 0.700 1.000 1 2016 2016
dbSNP: rs369504169
rs369504169
3 0.925 0.120 2 127421337 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs4444878
rs4444878
7 0.851 0.120 4 186292729 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs529565
rs529565
ABO
13 0.851 0.120 9 133274084 intron variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs60942712
rs60942712
5 0.882 0.120 3 88998609 intergenic variant G/T snv 7.9E-02 0.700 1.000 1 2016 2016
dbSNP: rs72798544
rs72798544
5 0.882 0.120 2 42372465 intron variant T/G snv 1.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs7654093
rs7654093
6 0.882 0.120 4 154623920 upstream gene variant A/T snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs9797861
rs9797861
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1042579
rs1042579
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.010 1.000 1 2007 2007
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 < 0.001 1 2019 2019
dbSNP: rs1131012
rs1131012
10 0.763 0.280 17 64350416 missense variant T/C snv 0.38 0.010 1.000 1 2015 2015
dbSNP: rs1164821473
rs1164821473
F5
2 0.925 0.080 1 169546573 missense variant T/A;C snv 0.010 1.000 1 2017 2017
dbSNP: rs118203905
rs118203905
F5
2 1.000 0.040 1 169555300 missense variant T/C snv 6.9E-04 2.0E-04 0.010 1.000 1 2003 2003
dbSNP: rs1203757587
rs1203757587
1 1.000 0.040 1 11792279 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121909613
rs121909613
FGA
5 0.882 0.160 4 154585712 splice acceptor variant G/A;C;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121918027
rs121918027
PLG
7 0.827 0.320 6 160738593 missense variant G/A snv 1.4E-03 3.5E-04 0.010 1.000 1 2003 2003