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: rs1169313
rs1169313
6 12 121004867 intron variant T/A;C snv 0.700 1.000 2 2013 2014
dbSNP: rs12049404
rs12049404
1 1 159744054 regulatory region variant C/T snv 0.17 0.700 1.000 2 2012 2013
dbSNP: rs12081480
rs12081480
1 1 159737200 intergenic variant T/G snv 0.14 0.700 1.000 2 2013 2014
dbSNP: rs12741825
rs12741825
3 1 159700355 downstream gene variant C/T snv 0.24 0.800 1.000 2 2012 2013
dbSNP: rs12749227
rs12749227
1 1 159689319 intergenic variant C/T snv 0.25 0.800 1.000 2 2012 2018
dbSNP: rs12755606
rs12755606
2 1 159700546 downstream gene variant C/G snv 0.24 0.800 1.000 2 2012 2016
dbSNP: rs1446976
rs1446976
1 1 159659404 intergenic variant A/G snv 0.44 0.700 1.000 2 2012 2013
dbSNP: rs1572970
rs1572970
1 1 159703795 downstream gene variant G/A snv 0.61 0.700 1.000 2 2012 2013
dbSNP: rs1891187
rs1891187
1 1 159659263 intergenic variant T/A snv 0.38 0.700 1.000 2 2012 2013
dbSNP: rs2251468
rs2251468
2 12 120967323 intron variant C/A;G;T snv 0.700 1.000 2 2012 2013
dbSNP: rs2393775
rs2393775
1 12 120986771 intron variant G/A;C snv 0.700 1.000 2 2013 2014
dbSNP: rs2464195
rs2464195
1 12 120997672 missense variant G/A snv 0.39 0.31 0.700 1.000 2 2013 2014
dbSNP: rs2494250
rs2494250
1 1 159308461 downstream gene variant G/C;T snv 0.700 1.000 2 2007 2012
dbSNP: rs2794526
rs2794526
1 1 159655688 intergenic variant G/A snv 0.38 0.700 1.000 2 2012 2013
dbSNP: rs340005
rs340005
3 15 60585831 intron variant G/A snv 0.67 0.700 1.000 2 2016 2018
dbSNP: rs3845624
rs3845624
2 1 159248476 regulatory region variant A/C snv 0.57 0.800 1.000 2 2012 2019
dbSNP: rs4128725
rs4128725
1 1 159436169 intron variant T/C;G snv 0.700 1.000 2 2007 2012
dbSNP: rs4275453
rs4275453
1 1 159738257 intergenic variant C/T snv 0.61 0.700 1.000 2 2013 2014
dbSNP: rs4420065
rs4420065
1 1 65695778 intergenic variant T/C snv 0.58 0.800 1.000 2 2011 2019
dbSNP: rs469772
rs469772
2 1 91064748 intergenic variant C/T snv 0.19 0.700 1.000 2 2016 2018
dbSNP: rs643434
rs643434
ABO
8 9 133266942 intron variant A/G;T snv 0.800 1.000 2 2012 2018
dbSNP: rs726640
rs726640
1 1 159685728 intergenic variant G/A;T snv 0.800 1.000 2 2012 2019
dbSNP: rs735396
rs735396
1 12 121001041 3 prime UTR variant T/C snv 0.39 0.31 0.700 1.000 2 2013 2014
dbSNP: rs7748513
rs7748513
1 6 41160234 intron variant A/G snv 0.17 0.800 1.000 2 2012 2019
dbSNP: rs10036128
rs10036128
1 5 6937069 intron variant G/A;C;T snv 0.700 1.000 1 2019 2019