Source: ALL
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: rs786205165
rs786205165
MTOR
4 0.882 0.120 1 11157173 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.830 1.000 5 2011 2019
dbSNP: rs11894252
rs11894252
EPAS1
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.810 1.000 4 2011 2019
dbSNP: rs12105918
rs12105918
ZEB2
1 1.000 0.120 2 144450626 intron variant T/C snv 6.1E-02 0.800 1.000 2 2013 2017
dbSNP: rs2121266
rs2121266
EPAS1
1 1.000 0.120 2 46308785 intron variant C/A snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs72858496
rs72858496
ZEB2
1 1.000 0.120 2 144452349 intron variant C/T snv 5.9E-02 0.800 1.000 2 2013 2015
dbSNP: rs10211665
rs10211665
EPAS1
1 1.000 0.120 2 46298957 intron variant T/C snv 0.58 0.700 1.000 1 2011 2011
dbSNP: rs1057519920
rs1057519920
NFE2L2
7 0.790 0.160 2 177234232 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
10 0.763 0.240 2 177234231 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs11125068
rs11125068
EPAS1
1 1.000 0.120 2 46300677 intron variant A/G snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs1143623
rs1143623
IL1B
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2017 2017
dbSNP: rs11684885
rs11684885
EPAS1
1 1.000 0.120 2 46306413 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs11689011
rs11689011
EPAS1
2 1.000 0.120 2 46314037 intron variant T/A;C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs12105521
rs12105521
ZEB2
1 1.000 0.120 2 144450769 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs12617313
rs12617313
EPAS1
2 0.925 0.120 2 46332637 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs13027293
rs13027293
STEAP3
1 1.000 0.120 2 119243542 intron variant G/T snv 0.33 0.700 1.000 1 2019 2019
dbSNP: rs13401103
rs13401103
ZEB2
1 1.000 0.120 2 144441056 intron variant G/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1609682
rs1609682
IL1A
3 0.882 0.160 2 112782628 intron variant G/T snv 0.70 0.010 1.000 1 2017 2017
dbSNP: rs17034950
rs17034950
EPAS1
1 1.000 0.120 2 46311655 intron variant G/A snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1867784
rs1867784
EPAS1
1 1.000 0.120 2 46307081 intron variant T/C snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs1867785
rs1867785
EPAS1
1 1.000 0.120 2 46307199 intron variant A/G snv 0.52 0.700 1.000 1 2011 2011
dbSNP: rs1867787
rs1867787
EPAS1
1 1.000 0.120 2 46298252 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs2034327
rs2034327
EPAS1
1 1.000 0.120 2 46321901 intron variant G/C snv 0.59 0.700 1.000 1 2011 2011
dbSNP: rs2044456
rs2044456
EPAS1
1 1.000 0.120 2 46319177 intron variant A/G snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs2292832
rs2292832
GPC1 ; MIR149 ; LOC100130449
46 0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59 0.010 1.000 1 2014 2014