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: rs6025
rs6025
F5
43 0.637 0.560 1 169549811 missense variant C/T snv 1.8E-02 0.730 1.000 4 1998 2016
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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.952 21 1997 2019
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.090 1.000 9 1999 2015
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 1999 2020
dbSNP: rs899127658
rs899127658
F2
82 0.547 0.720 11 46739084 missense variant G/A;C snv 0.090 1.000 9 1999 2018
dbSNP: rs751377893
rs751377893
F5
65 0.574 0.680 1 169546513 missense variant T/C snv 4.0E-06 0.070 1.000 7 2000 2018
dbSNP: rs1183194405
rs1183194405
F2
19 0.716 0.440 11 46719773 missense variant G/A;T snv 4.5E-06; 4.5E-06 0.030 1.000 3 1999 2008
dbSNP: rs121918474
rs121918474
11 0.763 0.320 3 93905799 missense variant T/C snv 2.8E-05 1.4E-05 0.030 1.000 3 2006 2010