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: rs2642438
rs2642438
6 1 220796686 missense variant A/G snv 0.75 0.78 0.700 1.000 4 2017 2019
dbSNP: rs507666
rs507666
ABO
8 1.000 0.040 9 133273983 intron variant A/G snv 0.700 1.000 4 2013 2019
dbSNP: rs9297994
rs9297994
3 8 58479765 intergenic variant G/A snv 0.75 0.700 1.000 4 2015 2019
dbSNP: rs10889348
rs10889348
4 1 62612551 intron variant A/T snv 0.32 0.700 1.000 3 2015 2019
dbSNP: rs112374545
rs112374545
2 19 11078223 intron variant C/T snv 0.11 0.700 1.000 3 2015 2019
dbSNP: rs1129555
rs1129555
5 10 112150963 3 prime UTR variant A/G snv 0.71 0.700 1.000 3 2015 2018
dbSNP: rs117492019
rs117492019
1 19 58170494 intron variant G/T snv 0.14 0.700 1.000 3 2015 2018
dbSNP: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.700 1.000 3 2018 2019
dbSNP: rs13392272
rs13392272
5 2 20994618 downstream gene variant C/T snv 0.37 0.700 1.000 3 2016 2019
dbSNP: rs174551
rs174551
6 11 61806212 5 prime UTR variant T/C snv 0.28 0.700 1.000 3 2015 2019
dbSNP: rs186696265
rs186696265
6 0.882 0.040 6 160690668 intergenic variant C/T snv 1.0E-02 0.700 1.000 3 2015 2019
dbSNP: rs2169387
rs2169387
6 8 9323885 intron variant A/G snv 0.87 0.700 1.000 3 2015 2018
dbSNP: rs2618566
rs2618566
2 20 17864040 intergenic variant G/C;T snv 0.700 1.000 3 2018 2019
dbSNP: rs28362286
rs28362286
6 0.851 0.080 1 55063542 stop gained C/A;T snv 5.6E-04 0.700 1.000 3 2014 2019
dbSNP: rs3208856
rs3208856
3 19 44793549 missense variant C/G;T snv 2.4E-02 3.3E-02 0.700 1.000 3 2014 2019
dbSNP: rs3843482
rs3843482
2 5 75343434 intron variant T/G snv 0.35 0.700 1.000 3 2015 2019
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.700 1.000 3 2012 2013
dbSNP: rs550057
rs550057
ABO
11 0.925 0.080 9 133271182 intron variant T/A;C snv 0.700 1.000 3 2015 2019
dbSNP: rs602633
rs602633
10 0.851 0.080 1 109278889 downstream gene variant T/G snv 0.63 0.700 1.000 3 2008 2012
dbSNP: rs704
rs704
4 1.000 0.040 17 28367840 missense variant G/A snv 0.51 0.51 0.700 1.000 3 2017 2018
dbSNP: rs77542162
rs77542162
11 1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02 0.700 1.000 3 2015 2018
dbSNP: rs10176901
rs10176901
2 2 168974151 intron variant G/A snv 0.57 0.700 1.000 2 2019 2019
dbSNP: rs1038026
rs1038026
4 1.000 0.080 19 44901805 3 prime UTR variant A/G;T snv 0.700 1.000 2 2018 2019
dbSNP: rs10903129
rs10903129
4 1 25442446 intron variant A/G snv 0.58 0.700 1.000 2 2018 2019
dbSNP: rs11164654
rs11164654
2 1 92502755 regulatory region variant T/C snv 0.85 0.700 1.000 2 2015 2018