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: rs753012199
rs753012199
Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0010308
Disease:
Congenital Hypothyroidism 		0.010 GeneticVariation BEFREE The current results suggest the association of goiter development with a homozygous c.1159G>A mutation, but the CH in the index patient could be triggered by other genetic and epigenetic factors distinct from the c.1159G>A mutation. 24717978 2014