rs732609, TPO

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial dyshormonogenetic goiter
CUI: C0342191
Disease: Familial dyshormonogenetic goiter
0.010 GeneticVariation BEFREE In conclusion, the substitutions mutations, namely, p.Ala373Ser, p.Ser398Thr, and p.Thr725Pro, had been involved in Bangladeshi patients with TDH and molecular docking-based study revealed that these mutations had damaging effect on the TPO protein activity. 30915365 2019
Subclinical hypothyroidism
CUI: C0271790
Disease: Subclinical hypothyroidism
0.010 GeneticVariation BEFREE The findings showed that the chance (odds ratio) of developing subclinical hypothyroidism in individuals who had C alleles was 1.5 and 5.6-fold higher than in individuals without these alleles in the A2095C and A2173C regions, respectively. 28500830 2017
Spindle cell hemangioma
CUI: C1304508
Disease: Spindle cell hemangioma
0.010 GeneticVariation BEFREE The aim of this study was to examine the relationship between the Asn698Thr (A2095C) and Thr725Pro (A2173C) polymorphisms of the TPO gene and anti-TPO levels in patients with SCH. 28500830 2017
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
0.010 GeneticVariation BEFREE The c.2173C allele of the Thr725Pro in TPO showed a significant association among hypothyroid patients compared to controls (p = 0.01; Odds ratio=1.45; 95% CI: 1.09-1.92) suggesting it to be a potential risk allele toward disease predisposition. 24420335 2014
Differentiated Thyroid Gland Carcinoma
0.010 GeneticVariation BEFREE From the three studied polymorphisms, significant associations were detected between DTC and rs2048722 and rs732609 in both populations (p < 0.05). 23754668 2013