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: rs142529006
rs142529006
4 7 100022093 intron variant T/A snv 6.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs368755101
rs368755101
1 2 100145754 intron variant G/- del 9.7E-04 0.700 1.000 1 2016 2016
dbSNP: rs13415465
rs13415465
1 2 100147542 intron variant T/G snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs7799441
rs7799441
1 7 100178649 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs6479003
rs6479003
1 9 100186403 intron variant A/G snv 0.93 0.700 1.000 1 2019 2019
dbSNP: rs141516158
rs141516158
1 14 100235643 intron variant C/T snv 5.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs10165255
rs10165255
2 2 10059474 intron variant A/G snv 0.59 0.700 1.000 1 2019 2019
dbSNP: rs62482241
rs62482241
2 7 100637885 intron variant G/A snv 0.23 0.700 1.000 1 2018 2018
dbSNP: rs7385804
rs7385804
14 0.851 0.120 7 100638347 intron variant C/A snv 0.65 0.700 1.000 3 2009 2019
dbSNP: rs2075672
rs2075672
8 7 100642673 intron variant A/G snv 0.65 0.700 1.000 3 2012 2017
dbSNP: rs143593369
rs143593369
1 7 100711557 downstream gene variant A/G snv 4.8E-03 0.700 1.000 2 2016 2019
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: rs2075671
rs2075671
ZAN
2 7 100747483 intron variant G/A;C snv 0.800 1.000 1 2009 2009
dbSNP: rs10953302
rs10953302
ZAN
1 7 100767944 synonymous variant C/T snv 0.23 0.20 0.700 1.000 1 2009 2009
dbSNP: rs538605220
rs538605220
1 7 100903574 downstream gene variant G/A snv 2.9E-03 0.700 1.000 1 2019 2019
dbSNP: rs3020623
rs3020623
2 7 101129564 intron variant G/A snv 0.32 0.700 1.000 1 2019 2019
dbSNP: rs142108859
rs142108859
1 10 101405830 intron variant C/A snv 3.9E-04 0.700 1.000 1 2018 2018
dbSNP: rs9859077
rs9859077
2 3 101417558 intron variant G/A;C snv 0.28 0.700 1.000 1 2019 2019
dbSNP: rs6543051
rs6543051
1 2 101430369 intron variant A/C;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1037116
rs1037116
2 15 101528701 upstream gene variant C/T snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs55995100
rs55995100
1 7 101588352 intergenic variant G/A snv 0.34 0.700 1.000 1 2019 2019
dbSNP: rs55893317
rs55893317
1 11 10159444 intron variant A/G snv 0.25 0.700 1.000 1 2016 2016
dbSNP: rs10955269
rs10955269
1 8 101653780 intron variant C/A snv 0.38 0.700 1.000 1 2019 2019
dbSNP: rs2690937
rs2690937
1 7 101765579 intergenic variant C/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs11042662
rs11042662
1 11 10193627 intron variant C/T snv 0.27 0.700 1.000 1 2019 2019