rs12406290, EGLN1

N. diseases: 1
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 1 231423480 intron variant A/G snv 0.19 0.010 1.000 1 2014 2014