VEGFA, vascular endothelial growth factor A, 7422

N. diseases: 1899; N. variants: 59
Disease: ABLEPHARON-MACROSTOMIA SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1413711
rs1413711 		0.882 0.200 6 43772941 intron variant T/A;C snv
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3025000
rs3025000 		1.000 0.120 6 43778432 non coding transcript exon variant C/T snv 0.29 0.23
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3025039
rs3025039 		0.576 0.720 6 43784799 3 prime UTR variant C/T snv 0.13
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs833070
rs833070 		0.776 0.440 6 43774889 non coding transcript exon variant T/C snv 0.58
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases 0.010 1.000 1 2011 2011