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: rs603424
rs603424
13 1.000 0.080 10 100315722 intron variant G/A snv 0.34 0.700 1.000 1 2018 2018
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.020 1.000 2 2008 2010
dbSNP: rs753350907
rs753350907
5 0.827 0.080 10 100806499 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs28935197
rs28935197
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs104894833
rs104894833
11 0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs1044261
rs1044261
3 1.000 0.080 10 1019770 stop gained C/T snv 5.0E-02 6.0E-02 0.700 1.000 1 2016 2016
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2016 2016
dbSNP: rs1317947
rs1317947
2 1.000 0.080 11 102617342 intron variant G/A snv 0.41 0.700 1.000 1 2018 2018
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2012 2012
dbSNP: rs2282377
rs2282377
2 1.000 0.080 14 104105483 intron variant C/G snv 0.12 0.12 0.700 1.000 1 2018 2018
dbSNP: rs267607183
rs267607183
3 0.882 0.080 14 104703440 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs117329947
rs117329947
1 1.000 0.080 12 105391125 intron variant A/C snv 2.2E-02 0.700 1.000 1 2019 2019
dbSNP: rs77113398
rs77113398
2 0.925 0.080 13 106451558 intergenic variant G/A snv 6.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs769354275
rs769354275
1 1.000 0.080 10 10650339 intergenic variant T/G snv 5.0E-04 0.700 1.000 1 2019 2019
dbSNP: rs7490924
rs7490924
2 0.925 0.080 13 106519396 non coding transcript exon variant A/G snv 0.51 0.010 < 0.001 1 2008 2008
dbSNP: rs2391335
rs2391335
2 0.925 0.080 13 106519637 non coding transcript exon variant T/C;G snv 0.50 0.010 < 0.001 1 2008 2008
dbSNP: rs143810759
rs143810759
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.010 1.000 1 2012 2012
dbSNP: rs281874762
rs281874762
3 0.882 0.160 X 108578114 stop gained G/A;T snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs281874682
rs281874682
2 0.925 0.080 X 108598805 missense variant C/A;T snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs1933182
rs1933182
3 1.000 0.080 1 109457216 intergenic variant A/C snv 0.63 0.700 1.000 1 2010 2010
dbSNP: rs2208338
rs2208338
2 1.000 0.080 6 11028421 intron variant G/A snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs12194000
rs12194000
2 1.000 0.080 6 110454809 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10794720
rs10794720
4 1.000 0.080 10 1110225 intron variant T/C snv 0.89 0.700 1.000 1 2010 2010
dbSNP: rs653178
rs653178
41 0.672 0.600 12 111569952 intron variant C/T snv 0.67 0.700 1.000 1 2010 2010