rs200475577, TPO

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.020 GeneticVariation BEFREE Sequencing other CH candidate genes in the patients with TPO variants revealed that patient 1 was homozygous for c.2422delT TPO mutation combined with double heterozygous DUOX2 pathogenic variants (p.R683L/p.L1343F) and patient 2 was triallelic for TPO pathogenic variants (p.R648Q/p.T561M/p.T561M). 27173810 2016
Congenital Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
0.020 GeneticVariation BEFREE Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism. 27135621 2016