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 8 2010 2019
dbSNP: rs2000999
rs2000999
7 1.000 0.080 16 72074194 intron variant G/A snv 0.16 0.800 1.000 7 2010 2019
dbSNP: rs2479409
rs2479409
4 1.000 0.040 1 55038977 upstream gene variant G/A snv 0.66 0.800 1.000 6 2010 2019
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 2019
dbSNP: rs12721109
rs12721109
5 1.000 0.080 19 44943964 intron variant G/A snv 1.3E-02 0.800 1.000 4 2012 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: rs10402271
rs10402271
7 1.000 0.080 19 44825957 downstream gene variant T/G snv 0.28 0.800 1.000 3 2008 2018
dbSNP: rs1160985
rs1160985
6 1.000 0.080 19 44900155 intron variant C/T snv 0.52 0.800 1.000 3 2013 2019
dbSNP: rs1501908
rs1501908
5 1.000 0.040 5 156971158 intergenic variant G/A;C;T snv 0.800 1.000 3 2009 2019
dbSNP: rs1531517
rs1531517
7 1.000 0.080 19 44738916 intergenic variant G/A snv 0.11 0.800 1.000 3 2012 2019
dbSNP: rs2954021
rs2954021
15 1.000 0.040 8 125469835 intron variant A/G snv 0.54 0.800 1.000 3 2010 2019
dbSNP: rs3780181
rs3780181
4 1.000 0.320 9 2640759 intron variant A/G snv 0.11 0.800 1.000 3 2013 2018
dbSNP: rs611917
rs611917
5 1.000 0.040 1 109272630 non coding transcript exon variant A/G snv 0.28 0.32 0.800 1.000 3 2008 2018
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: rs7575840
rs7575840
4 1.000 0.040 2 21050618 intergenic variant G/T snv 0.26 0.800 1.000 3 2008 2019
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: rs8106922
rs8106922
5 1.000 0.080 19 44898409 intron variant A/G snv 0.36 0.800 1.000 3 2012 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: rs1250229
rs1250229
4 1.000 0.040 2 215439661 upstream gene variant T/C snv 0.77 0.800 1.000 2 2013 2017
dbSNP: rs12748152
rs12748152
8 1.000 0.120 1 26811902 upstream gene variant C/T snv 5.7E-02 0.800 1.000 2 2013 2017
dbSNP: rs174554
rs174554
7 1.000 0.080 11 61811991 intron variant A/G snv 0.40 0.28 0.700 1.000 2 2018 2019
dbSNP: rs2001846
rs2001846
2 1.000 0.080 8 125466208 upstream gene variant T/A;C snv 0.700 1.000 2 2018 2018
dbSNP: rs2126259
rs2126259
9 1.000 8 9327636 intron variant T/C snv 0.87 0.800 1.000 2 2010 2018
dbSNP: rs2278426
rs2278426
11 1.000 0.080 19 11239812 missense variant C/T snv 0.11 0.11 0.700 1.000 2 2018 2019