Disease: ABLEPHARON-MACROSTOMIA SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12406290
rs12406290
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
CUI: C1860224
Disease:
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 GeneticVariation BEFREE Carriers of the "GG" haplotype of rs12406290-rs2153364 exhibited an increased risk of AMS after adjustments for age and smoking status. 25431923 2014
dbSNP: rs12757362
rs12757362
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
CUI: C1860224
Disease:
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 GeneticVariation BEFREE No significant association was noted between AMS and rs12757362, rs1339894, rs1361384, rs2009873, rs2739513 or rs2486729 before and after Bonferroni correction. 25431923 2014
dbSNP: rs2153364
rs2153364
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
CUI: C1860224
Disease:
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 GeneticVariation BEFREE Carriers of the "GG" haplotype of rs12406290-rs2153364 exhibited an increased risk of AMS after adjustments for age and smoking status. 25431923 2014
dbSNP: rs480902
rs480902
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
CUI: C1860224
Disease:
ABLEPHARON-MACROSTOMIA SYNDROME 		0.010 GeneticVariation BEFREE Age was found to be significantly associated with the EPAS1 SNP in the CMS patients while heart rate (HR) and oxygen saturation level of hemoglobin (SaO(2)) were found to be significantly associated with the EGLN1 (rs480902) SNP in the Han patients with AMS. 22595196 2012