Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2076738
rs2076738
TG
0.030 GeneticVariation BEFREE We have studied UPR development in two similar ERSDs, human congenital goiter caused by the C1264R and C1996S mutations in the thyroglobulin (Tg) gene and non-goitrous congenital hypothyroidism in rdw dwarf rats determined by the G2320R Tg mutation. 15171721

2004
dbSNP: rs2076738
rs2076738
TG
0.030 GeneticVariation BEFREE Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. 10199792

1999
dbSNP: rs2076738
rs2076738
TG
0.030 GeneticVariation BEFREE Missense mutation (C1263R) in the thyroglobulin gene causes congenital goiter with mild hypothyroidism by impaired intracellular transport. 9790265

1998