SOX2, SRY-box transcription factor 2, 6657

N. diseases: 503; N. variants: 23
Disease: Esophageal Atresia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893805
rs104893805
Entrez Id: 6657;347689
Gene Symbol: SOX2;SOX2-OT
SOX2;SOX2-OT
CUI: C0014850
Disease:
Esophageal Atresia 		0.010 GeneticVariation BEFREE A previously unreported case with severe bilateral microphthalmia and oesophageal atresia has a de novo missense mutation, R74P, that alters a highly evolutionarily conserved residue within the high mobility group domain, which is critical for DNA-binding of SOX2. 16543359 2006