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: rs699947
rs699947
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.060 0.833 6 2010 2017
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.050 0.800 5 2006 2012
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.040 0.750 4 2010 2017
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2005 2017
dbSNP: rs833061
rs833061
42 0.605 0.600 6 43769749 upstream gene variant C/G;T snv 0.040 1.000 4 2011 2017
dbSNP: rs14259
rs14259
19 0.724 0.360 12 121915890 missense variant A/C;G snv 4.0E-06; 0.32 0.030 1.000 3 2011 2015
dbSNP: rs3825172
rs3825172
14 0.776 0.360 12 121902569 non coding transcript exon variant C/G;T snv 0.030 1.000 3 2011 2015
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.030 1.000 3 2009 2016
dbSNP: rs507392
rs507392
EPO
2 0.925 0.160 7 100722313 intron variant G/A;C snv 0.030 1.000 3 2010 2017
dbSNP: rs12150053
rs12150053
1 1.000 0.120 17 1761175 upstream gene variant T/A;C snv 0.020 0.500 2 2007 2009
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: rs765798193
rs765798193
18 0.732 0.320 12 121915884 frameshift variant G/-;GG delins 0.020 1.000 2 2011 2014
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: rs869109213
rs869109213
10 0.790 0.200 7 150997269 intron variant GGGGGTGAGGAAGTCTAGACCTGCTGCG/A delins 0.020 1.000 2 2018 2019
dbSNP: rs1043307
rs1043307
14 0.776 0.360 12 121915890 missense variant A/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs10491034
rs10491034
1 1.000 0.120 10 48602322 intron variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10759931
rs10759931
9 0.790 0.360 9 117701869 upstream gene variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs11196205
rs11196205
7 0.827 0.200 10 113047288 intron variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs114790220
rs114790220
1 1.000 0.120 8 5306434 intergenic variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs11567245
rs11567245
1 1.000 0.120 7 82151406 intron variant T/A snv 0.010 < 0.001 1 2019 2019
dbSNP: rs11662496
rs11662496
1 1.000 0.120 18 43695432 intergenic variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1232898090
rs1232898090
40 0.637 0.600 22 46198429 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2002 2002
dbSNP: rs1241356540
rs1241356540
ACE
5 0.851 0.160 17 63497137 missense variant C/T snv 0.010 < 0.001 1 2006 2006