EPHA3, EPH receptor A3, 2042

N. diseases: 193; N. variants: 18
Disease: Cleft upper lip ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7650184
rs7650184
Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3
CUI: C0008924
Disease:
Cleft upper lip 		0.700 GeneticVariation GWASDB Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. 22863734 2012
dbSNP: rs7650466
rs7650466
Entrez Id: 2042
Gene Symbol: EPHA3
EPHA3
CUI: C0008924
Disease:
Cleft upper lip 		0.010 GeneticVariation BEFREE The rs7650466 T allele was associated with the incidence of NSCL/P (OR, 0.211; 95% CI, 0.131-0.338; adjusted p = 4.881 × 10<sup>-10</sup>) and cleft lip with or without palate (CL/P) (OR, 0.176; 95% CI, 0.104-0.297; adjusted p = 3.617 × 10<sup>-10</sup>), as well as with protective and dominant effects in both conditions. 29932736 2018