Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368488511
rs368488511
DUOX2
0.020 GeneticVariation BEFREE Furthermore, we also identified a compound heterozygosity involving the DUOX2 gene (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. 28222800

2017
dbSNP: rs368488511
rs368488511
DUOX2
0.020 GeneticVariation BEFREE To describe the first adult case of large goiter associated with a novel R1110Q mutation in the dual oxidase 2 (DUOX2) gene. 18426362

2008
dbSNP: rs180671269
rs180671269
DUOX2
0.010 GeneticVariation BEFREE Furthermore, we also identified a compound heterozygosity involving the DUOX2 gene (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. 28222800

2017
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.010 GeneticVariation BEFREE Therefore, in this study we investigated allele frequencies and genotype distributions of the TSHR D727E polymorphism, their association with clinical parameters, and the development of goiter in the Turkish population. 27525921

2016
dbSNP: rs2653349
rs2653349
HCRTR2
0.010 GeneticVariation BEFREE Although the p value did not reach a conventional genome-wide level of significance in our two-stage GWAS, we obtained significant results in the subsequent analyses that suggest that the rs2653349 SNP (Val308Ile) could be a genetic factor that is related to nicotine dependence and possibly pain, schizotypal personality traits, and goiter in the Japanese population. 26289589

2015
dbSNP: rs4774518
rs4774518
DUOXA1 ; DUOXA2
0.010 GeneticVariation BEFREE A novel heterozygous missense mutation, c.C78G (p.I26M), and a homozygous nonsense mutation, c.C738G (p.Y246X), in DUOXA2 were identified in CH patients with mild transient and mild permanent goiter, respectively. 25675383

2015
dbSNP: rs753012199
rs753012199
TPO
0.010 GeneticVariation BEFREE The current results suggest the association of goiter development with a homozygous c.1159G>A mutation, but the CH in the index patient could be triggered by other genetic and epigenetic factors distinct from the c.1159G>A mutation. 24717978

2014
dbSNP: rs755622
rs755622
MIF ; MIF-AS1
0.010 GeneticVariation BEFREE Although there were no significant differences in the allele or genotype distributions among patients with different grades of goiter in GD and healthy controls, the distribution of the C allele, especially C/C genotype, of the rs755622 single nucleotide polymorphism (SNP) in MIF, may be as a risk factor for goiter initiation whereas a protector against development of severe goiter in patients with untreated GD (p<0.05). 24667663

2014
dbSNP: rs140117073
rs140117073
GRPEL1 ; LOC105374368
0.010 GeneticVariation BEFREE In one of the families, we found two rare heterozygous missense variants, p.V56M in RGS12 and p.G37D in GRPEL1, which segregate with goiter and are both located within the same haplotype on 4p16. 23535966

2013
dbSNP: rs80169463
rs80169463
RGS12
0.010 GeneticVariation BEFREE In one of the families, we found two rare heterozygous missense variants, p.V56M in RGS12 and p.G37D in GRPEL1, which segregate with goiter and are both located within the same haplotype on 4p16. 23535966

2013
dbSNP: rs111033307
rs111033307
SLC26A4
0.010 GeneticVariation BEFREE The new variation was found in compound heterozygosity with L445W mutation in a hearing impaired patient with bilateral Mondini's dysplasia and goitre. 19615760

2009
dbSNP: rs121913308
rs121913308
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs377767395
rs377767395
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs377767402
rs377767402
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs55846256
rs55846256
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs75996173
rs75996173
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs76262710
rs76262710
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs77939446
rs77939446
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs79781594
rs79781594
RET
0.010 GeneticVariation BEFREE The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A. 15858153

2005
dbSNP: rs28939086
rs28939086
SLC26A4
0.010 GeneticVariation BEFREE Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. 15531480

2004