Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.020 GeneticVariation BEFREE Is the TSHR D727E polymorphism a genetic predisposition for multinodular goiter in the Turkish population? 27525921

2016
dbSNP: rs537209983
rs537209983
NKX2-1 ; SFTA3 ; NKX2-1-AS1
0.020 GeneticVariation BEFREE The overexpression of A339</span>V TTF1 significantly promoted hormone-independent growth of the normal thyroid cells, representing a cause of MNG and/or PTC. 25981745

2015
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.020 GeneticVariation BEFREE As a conclusion, the D727E polymorphism G allele may be related to MNG development in the studied population. 23336574

2013
dbSNP: rs537209983
rs537209983
NKX2-1 ; SFTA3 ; NKX2-1-AS1
0.020 GeneticVariation BEFREE A missense mutation (1016C>T</span>) was identified in TITF-1/NKX2.1 that led to a mutant TTF-1 protein (A339V) in four of the 20 MNG/PTC patients (20%). 19176457

2009
dbSNP: rs1284307491
rs1284307491
FOXE1 ; PTCSC2
0.010 GeneticVariation BEFREE One additional mutation was detected in a MNG (G140R). 25950909

2015
dbSNP: rs886037704
rs886037704
DICER1
0.010 GeneticVariation BEFREE Here, we present a 16-year-old Chinese adolescent suffering from an ovarian Sertoli-Leydig cell tumor,well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter with a nonsense mutation (c.3540C > A; p.Tyr1180*) in exon 21 of DICER1. 25451712

2015
dbSNP: rs2234919
rs2234919
TSHR ; CEP128
0.010 GeneticVariation BEFREE The association between development and progression of multinodular goiter and thyroid-stimulating hormone receptor gene D727E and P52T polymorphisms. 23336574

2013
dbSNP: rs57920071
rs57920071
LMNA
0.010 GeneticVariation BEFREE Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism. 17524034

2007