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: rs10178409
rs10178409
2 1.000 0.080 2 73628380 downstream gene variant G/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs115747230
rs115747230
1 1.000 0.080 9 76994030 downstream gene variant T/C snv 1.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.010 1.000 1 2014 2014
dbSNP: rs4714384
rs4714384
2 0.925 0.080 6 12297620 downstream gene variant T/C snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs6465825
rs6465825
4 1.000 0.080 7 77787122 downstream gene variant T/C snv 0.41 0.700 1.000 1 2010 2010
dbSNP: rs6587640
rs6587640
2 1.000 0.080 1 151982754 downstream gene variant C/T snv 0.37 0.700 1.000 1 2018 2018
dbSNP: rs7127946
rs7127946
2 1.000 0.080 11 48229123 downstream gene variant C/T snv 0.62 0.700 1.000 1 2019 2019
dbSNP: rs7652589
rs7652589
13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2016 2016
dbSNP: rs77138376
rs77138376
1 1.000 0.080 1 78168337 downstream gene variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs8014363
rs8014363
3 0.882 0.160 14 53964857 downstream gene variant C/T snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs9379832
rs9379832
3 1.000 0.080 6 26185972 downstream gene variant A/G snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs12917707
rs12917707
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.720 1.000 5 2009 2015
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: rs4819554
rs4819554
10 0.776 0.320 22 17084145 upstream gene variant G/A snv 0.84 0.020 1.000 2 2012 2015
dbSNP: rs10137082
rs10137082
2 0.925 0.080 14 23370824 upstream gene variant C/T snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2015 2015
dbSNP: rs10404257
rs10404257
2 0.925 0.080 19 38645846 upstream gene variant G/A snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs11123169
rs11123169
3 1.000 0.080 2 113209498 upstream gene variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11571317
rs11571317
3 0.882 0.160 2 203867285 upstream gene variant C/T snv 5.2E-02 0.010 1.000 1 2014 2014
dbSNP: rs138572244
rs138572244
1 1.000 0.080 22 29065297 upstream gene variant G/A snv 6.6E-03 0.700 1.000 1 2019 2019
dbSNP: rs1570360
rs1570360
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs16840252
rs16840252
8 0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16 0.010 1.000 1 2014 2014
dbSNP: rs1989248
rs1989248
1 1.000 0.080 7 148443990 upstream gene variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs2393778
rs2393778
2 1.000 0.080 12 120702516 upstream gene variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs2575390
rs2575390
3 0.925 0.080 16 23835433 upstream gene variant G/A;C snv 0.010 1.000 1 2010 2010