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: rs13207351
rs13207351
4 0.851 0.280 6 43770057 upstream gene variant A/G;T snv 0.020 1.000 2 2011 2014
dbSNP: rs16139
rs16139
36 0.658 0.560 7 24285260 missense variant T/A;C snv 4.0E-06; 3.0E-02 0.020 1.000 2 2004 2006
dbSNP: rs1800625
rs1800625
39 0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15 0.020 1.000 2 2012 2019
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.020 1.000 2 2014 2015
dbSNP: rs1927914
rs1927914
14 0.732 0.520 9 117702447 upstream gene variant G/A snv 0.52 0.020 1.000 2 2014 2015
dbSNP: rs3759890
rs3759890
2 0.925 0.160 15 45022396 upstream gene variant C/G snv 0.19 0.020 1.000 2 2013 2019
dbSNP: rs39059
rs39059
1 1.000 0.120 7 29215854 intron variant A/G snv 0.32 0.020 1.000 2 2011 2015
dbSNP: rs4462262
rs4462262
2 0.925 0.120 10 57429418 intergenic variant T/C snv 0.55 0.810 1.000 2 2011 2019
dbSNP: rs4838605
rs4838605
4 0.882 0.160 10 48491914 intron variant C/T snv 0.38 0.810 1.000 2 2011 2014
dbSNP: rs551238
rs551238
EPO
5 0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 0.020 1.000 2 2010 2015
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2014 2015
dbSNP: rs833069
rs833069
5 0.851 0.200 6 43774842 non coding transcript exon variant T/C;G snv 0.020 1.000 2 2011 2018
dbSNP: rs9362054
rs9362054
3 0.882 0.160 6 84468550 intron variant T/C snv 0.52 0.710 1.000 2 2014 2019
dbSNP: rs1002630
rs1002630
2 0.925 0.160 7 29388454 intron variant G/A snv 0.16 0.010 1.000 1 2015 2015
dbSNP: rs1024611
rs1024611
63 0.568 0.800 17 34252769 upstream gene variant A/G snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs1043045
rs1043045
1 1.000 0.120 3 57928451 3 prime UTR variant T/C snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2009 2009
dbSNP: rs1048709
rs1048709
8 0.776 0.320 6 31947158 synonymous variant A/G snv 0.82 0.85 0.010 1.000 1 2013 2013
dbSNP: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.010 1.000 1 2010 2010
dbSNP: rs10491034
rs10491034
1 1.000 0.120 10 48602322 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs1049353
rs1049353
42 0.630 0.600 6 88143916 synonymous variant C/T snv 0.21 0.20 0.010 1.000 1 2014 2014
dbSNP: rs10507875
rs10507875
3 0.925 0.160 13 77943119 intron variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs1057719
rs1057719
1 1.000 0.120 3 57927987 3 prime UTR variant A/G snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs1073203
rs1073203
4 0.882 0.160 5 125983763 intron variant C/G snv 0.15 0.010 1.000 1 2014 2014