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: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.050 1.000 5 2005 2016
dbSNP: rs1222213359
rs1222213359
62 0.574 0.720 6 43770966 missense variant G/A snv 0.030 1.000 3 2008 2012
dbSNP: rs12437854
rs12437854
2 0.925 0.080 15 93598604 intron variant T/G snv 0.10 0.030 1.000 3 2012 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.030 1.000 3 2005 2010
dbSNP: rs12917707
rs12917707
11 0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14 0.020 1.000 2 2012 2014
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: rs7583877
rs7583877
2 0.925 0.080 2 99844192 intron variant C/T snv 0.61 0.020 1.000 2 2012 2013
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: rs1033182
rs1033182
3 0.882 0.160 6 151873899 intron variant G/A snv 0.26 0.010 1.000 1 2007 2007
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: rs10808565
rs10808565
2 0.925 0.080 8 127995166 non coding transcript exon variant C/T snv 0.31 0.010 1.000 1 2007 2007
dbSNP: rs10887800
rs10887800
11 0.790 0.280 10 88316086 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10951982
rs10951982
5 0.851 0.160 7 6382925 intron variant G/A;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs11089788
rs11089788
5 0.851 0.120 22 36355056 intron variant C/A snv 0.46 0.010 1.000 1 2011 2011
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: rs1162592300
rs1162592300
ALB
3 0.925 0.080 4 73412045 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs12137135
rs12137135
2 0.925 0.080 1 22348728 intergenic variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs12197043
rs12197043
3 0.882 0.160 6 149130141 regulatory region variant A/G snv 0.37 0.010 1.000 1 2008 2008
dbSNP: rs12431381
rs12431381
2 0.925 0.080 14 59643053 intron variant T/C snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs12434215
rs12434215
3 0.882 0.160 14 59642862 intron variant A/G snv 0.33 0.010 1.000 1 2015 2015
dbSNP: rs12513649
rs12513649
6 0.851 0.160 5 173045049 regulatory region variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs12917114
rs12917114
2 0.925 0.080 15 47852953 intron variant C/T snv 8.9E-02 0.010 1.000 1 2014 2014
dbSNP: rs13333226
rs13333226
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.010 1.000 1 2016 2016