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: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2018 2018
dbSNP: rs2981582
rs2981582
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2013 2013
dbSNP: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs3774932
rs3774932
1 1.000 0.080 4 102503036 intron variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.010 1.000 1 2016 2016
dbSNP: rs9344
rs9344
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2013 2013