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: rs1367117
rs1367117
8 1.000 0.080 2 21041028 missense variant G/A snv 0.26 0.24 0.800 1.000 6 2010 2019
dbSNP: rs2000999
rs2000999
7 1.000 0.080 16 72074194 intron variant G/A snv 0.16 0.800 1.000 6 2010 2018
dbSNP: rs9987289
rs9987289
10 1.000 0.040 8 9325848 non coding transcript exon variant A/G snv 0.87 0.800 1.000 6 2010 2019
dbSNP: rs12670798
rs12670798
5 1.000 0.040 7 21567734 intron variant T/C snv 0.26 0.800 1.000 5 2009 2018
dbSNP: rs2479409
rs2479409
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 5 2010 2018
dbSNP: rs507666
rs507666
ABO
8 1.000 0.040 9 133273983 intron variant A/G snv 0.800 1.000 4 2013 2019
dbSNP: rs174554
rs174554
7 1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28 0.700 1.000 3 2015 2019
dbSNP: rs2126259
rs2126259
9 1.000 8 9327636 intron variant T/C snv 0.87 0.700 1.000 3 2016 2019
dbSNP: rs2278426
rs2278426
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.700 1.000 3 2018 2019
dbSNP: rs2304130
rs2304130
5 1.000 0.080 19 19678719 splice region variant A/G snv 0.10 0.12 0.800 1.000 3 2009 2019
dbSNP: rs28362263
rs28362263
3 1.000 0.080 1 55058182 missense variant G/A;C snv 7.2E-03 0.700 1.000 3 2018 2019
dbSNP: rs4939883
rs4939883
5 1.000 0.040 18 49640844 TF binding site variant T/C;G snv 0.700 1.000 3 2009 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: rs10402271
rs10402271
7 1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28 0.800 1.000 2 2012 2018
dbSNP: rs1160985
rs1160985
6 1.000 0.080 19 44900155 intron variant C/T snv 0.52 0.800 1.000 2 2013 2019
dbSNP: rs12042319
rs12042319
6 1.000 0.040 1 62584148 3 prime UTR variant G/A snv 0.36 0.700 1.000 2 2016 2019
dbSNP: rs12130333
rs12130333
4 1.000 0.080 1 62726106 regulatory region variant C/T snv 0.16 0.800 1.000 2 2012 2019
dbSNP: rs12208357
rs12208357
5 1.000 0.080 6 160122116 missense variant C/T snv 5.2E-02 4.9E-02 0.700 1.000 2 2015 2018
dbSNP: rs12686004
rs12686004
6 1.000 0.040 9 104891145 intron variant G/A snv 9.1E-02 0.800 1.000 2 2012 2018
dbSNP: rs12721109
rs12721109
5 1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02 0.800 1.000 2 2012 2018
dbSNP: rs1501908
rs1501908
5 1.000 0.040 5 156971158 intergenic variant G/A;C;T snv 0.700 1.000 2 2018 2019
dbSNP: rs1531517
rs1531517
7 1.000 0.080 19 44738916 intergenic variant G/A snv 0.11 0.800 1.000 2 2012 2018
dbSNP: rs2156552
rs2156552
6 1.000 0.040 18 49655298 downstream gene variant A/G;T snv 0.800 1.000 2 2012 2018
dbSNP: rs2678379
rs2678379
8 1.000 0.080 2 21003688 intron variant A/G snv 0.76 0.800 1.000 2 2012 2018
dbSNP: rs283813
rs283813
6 1.000 0.080 19 44885917 intron variant T/A snv 0.11 0.16 0.700 1.000 2 2012 2012