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: rs612169
rs612169
ABO
10 9 133268030 intron variant G/A snv 0.700 1.000 2 2011 2012
dbSNP: rs630014
rs630014
ABO
9 9 133274306 intron variant G/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs6427195
rs6427195
F5
2 1 169511938 downstream gene variant A/C;T snv 0.700 1.000 2 2011 2012
dbSNP: rs643434
rs643434
ABO
8 9 133266942 intron variant A/G;T snv 0.700 1.000 2 2011 2012
dbSNP: rs644234
rs644234
ABO
7 9 133266804 intron variant G/T snv 0.700 1.000 2 2011 2012
dbSNP: rs649129
rs649129
10 1.000 0.080 9 133278860 upstream gene variant T/C;G snv 0.700 1.000 2 2011 2012
dbSNP: rs651007
rs651007
22 0.851 0.160 9 133278431 upstream gene variant T/A;C snv 0.700 1.000 2 2011 2012
dbSNP: rs657152
rs657152
ABO
22 0.882 0.200 9 133263862 intron variant A/C;T snv 0.700 1.000 2 2011 2012
dbSNP: rs674302
rs674302
ABO
8 9 133271249 intron variant A/T snv 0.700 1.000 2 2011 2012
dbSNP: rs7538157
rs7538157
1 1 169382306 intron variant A/C;G snv 5.9E-03; 6.2E-05 0.700 1.000 2 2011 2012
dbSNP: rs9797861
rs9797861
9 0.790 0.200 19 10632450 intron variant C/A;G;T snv 0.710 1.000 2 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs10476160
rs10476160
1 5 175547573 regulatory region variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs10516089
rs10516089
1 5 171724227 downstream gene variant T/A;C snv 0.700 1.000 1 2013 2013
dbSNP: rs10746487
rs10746487
1 1 9278630 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11132387
rs11132387
1 4 186297569 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs1183827513
rs1183827513
F2
1 11 46739325 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1209731
rs1209731
2 1 169355555 intron variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs12450494
rs12450494
1 17 7304568 upstream gene variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs12473559
rs12473559
CPO
1 2 206828392 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1312546120
rs1312546120
F5
7 0.807 0.160 1 169541191 missense variant T/C snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1331120970
rs1331120970
1 2 127428921 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs141325867
rs141325867
1 11 47422103 intron variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1432422306
rs1432422306
FGA
3 0.925 0.120 4 154586432 frameshift variant TTCCAGT/- del 4.0E-06 0.010 1.000 1 2006 2006