Annotation Detail
Information
- Associated Genes
- VEGFA
- Associated Variants
-
POLR1C c.945+240786A>G
POLR1C c.945+240822A>G
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 )
POLR1C c.945+240786A>G
POLR1C c.945+240822A>G
NOS3 p.Asp298Glu (p.D298E) ( ENST00000297494.8, ENST00000461406.5, ENST00000467517.1, ENST00000484524.5 ) - Associated Disease
- ABLEPHARON-MACROSTOMIA SYNDROME
- Source Database
- DisGeNET
- Description
- Heart rate (HR) was found to be significantly associated with the eNOS3 SNP (rs1799983) and arterial oxygen saturation of hemoglobin (SaO2) was found to be significantly associated with the VEGFA SNPs (rs13207351, rs1570360) in Han patients with AMS.
- Pubmed
- 22729570
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00108576748832121
- Year of publication
- 2012
Drugs