Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119472026
rs119472026
DUOX2
0.020 GeneticVariation BEFREE We previously described a Proband and her brother (P1, P2) with unusually severe CH associated with a DUOX2 homozygous nonsense mutation (p.R434*); P1, P2: thyrotropin >100 µU/mL [reference range (RR) 0.5 to 6.3]; and P1: free T4 (FT4) <0.09 ng/dL (RR 0.9 to 2.3). 28633507

2017
dbSNP: rs119472026
rs119472026
DUOX2
0.020 GeneticVariation BEFREE A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism. 24127536

2014