Gene: TG ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912649
rs121912649
TG
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912650
rs121912650
TG
A 0.800 CausalMutation CLINVAR

dbSNP: rs137854434
rs137854434
TG
A 0.800 CausalMutation CLINVAR

dbSNP: rs2076739
rs2076739
TG
A 0.800 CausalMutation CLINVAR

dbSNP: rs774274702
rs774274702
TG
A 0.700 CausalMutation CLINVAR Against all odds: blended phenotypes of three single-gene defects. 26813946

2016
dbSNP: rs121912648
rs121912648
TG
T 0.700 CausalMutation CLINVAR New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism. 23164529

2013
dbSNP: rs121912648
rs121912648
TG
T 0.700 CausalMutation CLINVAR A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism. 21128992

2011
dbSNP: rs121912648
rs121912648
TG
T 0.700 CausalMutation CLINVAR New insights into thyroglobulin pathophysiology revealed by the study of a family with congenital goiter. 20410234

2010
dbSNP: rs121912648
rs121912648
TG
T 0.700 CausalMutation CLINVAR A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation. 15769978

2005
dbSNP: rs121912648
rs121912648
TG
T 0.700 CausalMutation CLINVAR Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. 14764776

2004
dbSNP: rs121912648
rs121912648
TG
T 0.700 CausalMutation CLINVAR A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. 10404833

1999
dbSNP: rs121912646
rs121912646
TG
T 0.700 CausalMutation CLINVAR

dbSNP: rs121912647
rs121912647
TG
C 0.700 CausalMutation CLINVAR

dbSNP: rs137854433
rs137854433
TG
C 0.700 CausalMutation CLINVAR

dbSNP: rs142698837
rs142698837
TG
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554649344
rs1554649344
TG
GC 0.700 CausalMutation CLINVAR

dbSNP: rs199599591
rs199599591
TG
A 0.700 CausalMutation CLINVAR

dbSNP: rs2069566
rs2069566
TG ; LOC105375768
A 0.700 CausalMutation CLINVAR

dbSNP: rs898275076
rs898275076
TG
A 0.700 CausalMutation CLINVAR