Gene: EPAS1 ×
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: rs7579899
rs7579899
EPAS1
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.030 1.000 3 2011 2016
dbSNP: rs11894252
rs11894252
EPAS1
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.010 1.000 1 2011 2011
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: rs1267580705
rs1267580705
EPAS1
4 0.925 0.240 2 46360680 missense variant G/A snv 0.010 1.000 1 2014 2014
dbSNP: rs9679290
rs9679290
EPAS1
2 0.925 0.120 2 46330505 intron variant G/C snv 0.41 0.010 1.000 1 2012 2012