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: rs2900174
rs2900174
1 1.000 0.120 12 11394598 intron variant A/G snv 0.12 0.800 1.000 2 2012 2017
dbSNP: rs763780
rs763780
87 0.531 0.720 6 52236941 missense variant T/C snv 6.7E-02 6.6E-02 0.800 1.000 2 2012 2017
dbSNP: rs11141915
rs11141915
3 0.882 0.160 9 87620879 intron variant A/C snv 0.25 0.800 1.000 1 2012 2012
dbSNP: rs121912578
rs121912578
1 1.000 0.120 18 51078285 missense variant G/C snv 0.800 0
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.740 1.000 7 2010 2018
dbSNP: rs505922
rs505922
ABO
34 0.689 0.520 9 133273813 intron variant C/T snv 0.740 1.000 6 2009 2018
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.740 1.000 4 2003 2019
dbSNP: rs3790844
rs3790844
4 0.882 0.200 1 200038304 intron variant A/C;G snv 0.730 1.000 5 2010 2018
dbSNP: rs11655237
rs11655237
17 0.724 0.280 17 72404025 non coding transcript exon variant C/T snv 0.16 0.720 1.000 3 2015 2019
dbSNP: rs1561927
rs1561927
6 0.807 0.280 8 128555832 intron variant C/T snv 0.65 0.710 1.000 3 2014 2019
dbSNP: rs1517037
rs1517037
3 0.882 0.120 18 59211042 intergenic variant C/T snv 0.23 0.710 0.500 2 2015 2018
dbSNP: rs13303010
rs13303010
2 0.925 0.120 1 959193 intron variant G/A snv 0.82 0.69 0.710 < 0.001 1 2018 2018
dbSNP: rs2941471
rs2941471
4 0.851 0.240 8 75558169 intron variant G/A snv 0.65 0.710 < 0.001 1 2018 2018
dbSNP: rs4795218
rs4795218
2 0.925 0.120 17 37718512 intron variant A/G snv 0.82 0.710 < 0.001 1 2018 2018
dbSNP: rs9543325
rs9543325
3 0.882 0.200 13 73342491 regulatory region variant C/G;T snv 0.700 1.000 4 2010 2018
dbSNP: rs9581943
rs9581943
1 1.000 0.120 13 27919860 upstream gene variant G/A snv 0.31 0.700 1.000 3 2014 2018
dbSNP: rs10094872
rs10094872
4 0.882 0.200 8 127707639 intron variant A/T snv 0.33 0.700 1.000 2 2016 2018
dbSNP: rs1486134
rs1486134
1 1.000 0.120 2 67412637 downstream gene variant G/C;T snv 0.700 1.000 2 2015 2018
dbSNP: rs16986825
rs16986825
1 1.000 0.120 22 28904318 intron variant C/T snv 0.13 0.700 1.000 2 2014 2018
dbSNP: rs17688601
rs17688601
1 1.000 0.120 7 40827064 intron variant C/A snv 0.20 0.700 1.000 2 2015 2018
dbSNP: rs2736098
rs2736098
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.700 1.000 2 2014 2018
dbSNP: rs2816938
rs2816938
2 1.000 0.120 1 200016240 upstream gene variant T/A snv 0.37 0.700 1.000 2 2016 2018
dbSNP: rs35226131
rs35226131
2 1.000 0.120 5 1295258 upstream gene variant C/T snv 2.6E-02 0.700 1.000 2 2016 2018
dbSNP: rs6971499
rs6971499
1 1.000 0.120 7 130995762 intron variant T/C snv 0.15 0.700 1.000 2 2014 2018
dbSNP: rs7190458
rs7190458
1 1.000 0.120 16 75229763 synonymous variant G/A snv 5.1E-02 0.11 0.700 1.000 2 2014 2018