Gene: DUOX2 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119472029
rs119472029
DUOX2
A 0.800 CausalMutation CLINVAR

dbSNP: rs180671269
rs180671269
DUOX2
A 0.700 CausalMutation CLINVAR Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. 30154845

2018
dbSNP: rs181461079
rs181461079
DUOX2
A 0.700 GeneticVariation CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020

2017
dbSNP: rs181461079
rs181461079
DUOX2
A 0.700 GeneticVariation CLINVAR Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. 28541007

2017
dbSNP: rs191759494
rs191759494
DUOX2
T 0.700 CausalMutation CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020

2017
dbSNP: rs748793969
rs748793969
DUOX2
T 0.700 GeneticVariation CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020

2017
dbSNP: rs180671269
rs180671269
DUOX2
A 0.700 CausalMutation CLINVAR Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. 27108200

2016
dbSNP: rs181461079
rs181461079
DUOX2
A 0.700 GeneticVariation CLINVAR High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. 27498126

2016
dbSNP: rs191759494
rs191759494
DUOX2
T 0.700 CausalMutation CLINVAR DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 26709262

2016
dbSNP: rs200592893
rs200592893
DUOX2
C 0.700 GeneticVariation CLINVAR The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. 27557340

2016
dbSNP: rs200592893
rs200592893
DUOX2
C 0.700 GeneticVariation CLINVAR Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. 26742565

2016
dbSNP: rs748194265
rs748194265
DUOX2
A 0.700 GeneticVariation CLINVAR Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. 27108200

2016
dbSNP: rs748793969
rs748793969
DUOX2
T 0.700 GeneticVariation CLINVAR DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 26709262

2016
dbSNP: rs180671269
rs180671269
DUOX2
A 0.700 CausalMutation CLINVAR Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. 26349762

2015
dbSNP: rs748194265
rs748194265
DUOX2
A 0.700 GeneticVariation CLINVAR Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. 26349762

2015
dbSNP: rs191759494
rs191759494
DUOX2
T 0.700 CausalMutation CLINVAR High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 25248169

2014
dbSNP: rs191759494
rs191759494
DUOX2
T 0.700 GeneticVariation CLINVAR High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 25248169

2014
dbSNP: rs567500345
rs567500345
DUOX2
TC 0.700 GeneticVariation CLINVAR The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. 24423310

2014
dbSNP: rs191759494
rs191759494
DUOX2
T 0.700 CausalMutation CLINVAR Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. 23457309

2013
dbSNP: rs181461079
rs181461079
DUOX2
A 0.700 GeneticVariation CLINVAR Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 21900383

2011
dbSNP: rs191759494
rs191759494
DUOX2
T 0.700 GeneticVariation CLINVAR Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 21900383

2011
dbSNP: rs191759494
rs191759494
DUOX2
T 0.700 CausalMutation CLINVAR Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 21900383

2011
dbSNP: rs180671269
rs180671269
DUOX2
A 0.700 CausalMutation CLINVAR Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 18765513

2008
dbSNP: rs200592893
rs200592893
DUOX2
C 0.700 GeneticVariation CLINVAR Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 18765513

2008
dbSNP: rs748793969
rs748793969
DUOX2
T 0.700 GeneticVariation CLINVAR Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 18765513

2008