SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Disease: Pituitary dwarfism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112180170
rs112180170
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
CUI: C0013338
Disease:
Pituitary dwarfism 		0.010 GeneticVariation BEFREE We also identified a previously reported seven-alanine expansion (p.A240_A241ins7, +7PA) in two male siblings with isolated GH deficiency and a distinct phenotype, in addition to the nonsynonymous variant p.R5Q in an unrelated individual; this appears to have no functional effect on the protein. 21289259 2011