rs4953348, EPAS1

N. diseases: 2
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 1.000 0.120 2 46331293 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 1.000 0.120 2 46331293 intron variant A/G snv 0.42 0.010 1.000 1 2016 2016