Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1413711
rs1413711
VEGFA
0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.040 1.000 4 2012 2014
dbSNP: rs1413711
rs1413711
VEGFA
0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 1.000 1 2013 2013
dbSNP: rs1413711
rs1413711
VEGFA
0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 1.000 1 2011 2011