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: rs546810441
rs546810441
2 7 100486348 intron variant G/A snv 4.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs554093579
rs554093579
1 7 100537063 upstream gene variant A/C snv 5.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs769651870
rs769651870
1 7 100635310 intron variant T/A;C snv 1.2E-03 0.700 1.000 1 2016 2016
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.800 1.000 1 2009 2009
dbSNP: rs2075672
rs2075672
8 7 100642673 intron variant A/G snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs10953299
rs10953299
1 7 100645788 intron variant T/C snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs62482253
rs62482253
2 7 100677821 splice region variant G/A snv 2.6E-03 2.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs149823406
rs149823406
2 7 100716851 upstream gene variant C/T snv 4.6E-03 0.700 1.000 1 2016 2016
dbSNP: rs551238
rs551238
EPO
5 0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs59901009
rs59901009
2 11 10156890 intron variant T/C snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs568645819
rs568645819
2 11 10228118 intron variant TTGT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs13114738
rs13114738
16 0.851 0.120 4 102363708 intron variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs112682076
rs112682076
2 1 10297748 intron variant G/C snv 5.8E-03 0.700 1.000 1 2016 2016
dbSNP: rs629301
rs629301
22 0.851 0.120 1 109275684 3 prime UTR variant G/T snv 0.74 0.700 1.000 1 2016 2016
dbSNP: rs6533530
rs6533530
16 0.851 0.120 4 110810780 intergenic variant T/C snv 0.47 0.700 1.000 1 2016 2016
dbSNP: rs62160676
rs62160676
5 2 111410354 intron variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs3184504
rs3184504
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 1 2016 2016
dbSNP: rs138308793
rs138308793
1 2 111493181 intron variant G/A snv 0.11 0.700 1.000 1 2016 2016
dbSNP: rs11065987
rs11065987
17 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 0.800 1.000 2 2009 2017
dbSNP: rs4506565
rs4506565
22 0.790 0.280 10 112996282 intron variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7563124
rs7563124
1 2 113207621 3 prime UTR variant T/A snv 0.27 0.700 1.000 1 2016 2016
dbSNP: rs1905376
rs1905376
2 8 115521531 intron variant A/G snv 0.55 0.700 1.000 1 2016 2016
dbSNP: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.700 1.000 1 2016 2016
dbSNP: rs651821
rs651821
17 0.851 0.360 11 116791863 5 prime UTR variant C/T snv 0.88 0.89 0.700 1.000 1 2018 2018
dbSNP: rs7115242
rs7115242
16 0.851 0.120 11 117037567 intron variant A/G;T snv 0.700 1.000 1 2016 2016