TPO, thyroid peroxidase, 7173

N. diseases: 306; N. variants: 47
Disease: Congenital Hypothyroidism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs369441749
rs369441749
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE We present an 8-day-old male with mild CH who was identified to have a G to A transition in the fifth codon of the TPO gene (c.13G>A; p.Ala5Thr). 26831560 2015