Gene: EPAS1 ×
Source: GWASCAT ×
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
1 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.830 1.000 3 2011 2019
dbSNP: rs11894252
rs11894252
EPAS1
2 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.810 1.000 2 2011 2019
dbSNP: rs2121266
rs2121266
EPAS1
1 1.000 0.120 2 46308785 intron variant C/A snv 0.61 0.800 1.000 1 2011 2019
dbSNP: rs4953345
rs4953345
EPAS1
1 1.000 0.120 2 46325462 intron variant T/A;C snv 0.700 1.000 1 2015 2015