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: 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: 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: rs73228199
rs73228199
1 1.000 0.160 3 111597517 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs78464534
rs78464534
1 1.000 0.160 2 115234275 intron variant C/A;G snv 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
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: rs201584991
rs201584991
1 1.000 0.160 8 124979483 downstream gene variant ATT/- delins 2.6E-04 0.700 1.000 1 2019 2019
dbSNP: rs74161190
rs74161190
1 1.000 0.160 10 130737530 intergenic variant A/G snv 1.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs74705672
rs74705672
1 1.000 0.160 8 132042380 intron variant A/T snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs2064196
rs2064196
1 1.000 0.160 6 144266047 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs4726066
rs4726066
1 1.000 0.160 7 151625186 intron variant G/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs61811867
rs61811867
1 1.000 0.160 1 154802768 intron variant C/T snv 0.13 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: 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: 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: 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: rs73050171
rs73050171
1 1.000 0.160 3 174801688 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs72740408
rs72740408
1 1.000 0.160 1 191136701 intron variant G/A snv 0.17 0.700 1.000 1 2019 2019
dbSNP: rs149201869
rs149201869
1 1.000 0.160 2 215487796 downstream gene variant T/A snv 2.4E-03 0.700 1.000 1 2019 2019
dbSNP: rs7533141
rs7533141
1 1.000 0.160 1 217543535 intron variant T/C snv 0.57 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: rs11488711
rs11488711
1 1.000 0.160 1 229105486 intron variant C/T snv 0.15 0.700 1.000 1 2019 2019
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