rs748793969, DUOX2

N. diseases: 5
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
CUI: C2940785
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3
0.010 GeneticVariation BEFREE In two nonconsanguineous families with nongoitrous euthyroid hyperthyrotropinemia, typical of the RTSH phenotype, exome analysis identified five rare DUOX2 gene variants (p.A649E, p.P1391A, p.R885L, p.G488R, and p.SF965-6SfsX29) found to be pathogenic. 27821020 2017