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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.080 1.000 8 2003 2020
dbSNP: rs2070600
rs2070600
82 0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02 0.070 0.857 7 2003 2016
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.060 0.500 6 2006 2018
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: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.050 0.600 5 2005 2017
dbSNP: rs1416580204
rs1416580204
MOK
49 0.608 0.720 14 102250837 missense variant C/T snv 4.0E-06 7.0E-06 0.040 0.750 4 2003 2013
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: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2017 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 0.750 4 2005 2017
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.040 0.750 4 2013 2017
dbSNP: rs2146323
rs2146323
13 0.752 0.480 6 43777358 non coding transcript exon variant C/A snv 0.31 0.040 1.000 4 2011 2018
dbSNP: rs759853
rs759853
6 0.827 0.320 7 134459206 non coding transcript exon variant G/A snv 0.33 0.040 1.000 4 2009 2019
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: rs3025039
rs3025039
62 0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13 0.030 1.000 3 2014 2017
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: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.030 0.667 3 2006 2009
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: rs74421874
rs74421874
14 0.776 0.360 12 121902546 non coding transcript exon variant G/A snv 0.24 0.030 1.000 3 2011 2015
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: rs12219125
rs12219125
2 0.925 0.120 10 20304158 intergenic variant G/T snv 0.15 0.810 1.000 2 2011 2019
dbSNP: rs12948385
rs12948385
1 1.000 0.120 17 1761607 upstream gene variant G/A snv 0.26 0.020 0.500 2 2007 2009
dbSNP: rs13064954
rs13064954
1 1.000 0.120 3 157136953 downstream gene variant G/A snv 7.9E-02 0.810 1.000 2 2011 2016