rs480902, EGLN1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
ABLEPHARON-MACROSTOMIA SYNDROME
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
14 0.882 0.200 1 231395881 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
Chronic mountain sickness
CUI: C0274294
Disease: Chronic mountain sickness
5 0.882 0.200 1 231395881 intron variant T/C snv 0.64 0.010 1.000 1 2012 2012
High altitude pulmonary edema
CUI: C0340100
Disease: High altitude pulmonary edema
45 0.882 0.200 1 231395881 intron variant T/C snv 0.64 0.010 1.000 1 2015 2015