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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2003 2003
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2016 2016
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2003 2003
dbSNP: rs1801282
rs1801282
131 0.500 0.840 3 12351626 missense variant C/G snv 0.11 8.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.010 1.000 1 2013 2013
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2008 2008
dbSNP: rs1800471
rs1800471
48 0.597 0.840 19 41352971 missense variant C/G;T snv 5.6E-02 0.010 1.000 1 2002 2002
dbSNP: rs1617640
rs1617640
EPO
15 0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs2292239
rs2292239
13 0.742 0.480 12 56088396 intron variant T/G snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs6921438
rs6921438
10 0.776 0.360 6 43957870 intergenic variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs10738760
rs10738760
7 0.807 0.320 9 2691186 regulatory region variant A/G snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs3825932
rs3825932
6 0.827 0.360 15 78943104 intron variant T/C snv 0.50 0.010 1.000 1 2015 2015
dbSNP: rs184340784
rs184340784
2 0.925 0.160 1 4529823 intergenic variant C/T snv 6.1E-04 0.700 1.000 1 2019 2019
dbSNP: rs1902491
rs1902491
2 0.925 0.240 4 155134181 intergenic variant C/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs200295620
rs200295620
2 0.925 0.160 3 168172398 intergenic variant T/-;TT delins 5.7E-03 0.700 1.000 1 2019 2019
dbSNP: rs3917779
rs3917779
2 0.925 0.280 1 169601610 intron variant G/A snv 0.22 0.010 1.000 1 2015 2015
dbSNP: rs4865047
rs4865047
2 0.925 0.240 4 55955640 intron variant C/T snv 0.12 0.010 1.000 1 2018 2018
dbSNP: rs1000708
rs1000708
1 1.000 0.160 12 59689707 intron variant C/T snv 0.58 0.700 1.000 1 2019 2019
dbSNP: rs1065386
rs1065386
1 1.000 0.160 6 31356770 missense variant G/A;C;T snv 0.34; 5.6E-06 0.700 1.000 1 2019 2019
dbSNP: rs11201335
rs11201335
1 1.000 0.160 10 85018443 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1144964
rs1144964
CPM
1 1.000 0.160 12 68944857 intron variant G/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11488711
rs11488711
1 1.000 0.160 1 229105486 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
dbSNP: rs114921230
rs114921230
1 1.000 0.160 1 226595161 intron variant G/A snv 3.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs115523882
rs115523882
1 1.000 0.160 3 168158417 intergenic variant A/G snv 9.5E-03 0.700 1.000 1 2019 2019
dbSNP: rs116396065
rs116396065
1 1.000 0.160 8 121117030 intron variant T/A snv 8.4E-02 0.700 1.000 1 2019 2019