Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1810396
rs1810396
TG
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs121912648
rs121912648
TG
0.700 GeneticVariation GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965

2016

dbSNP: rs142698837
rs142698837
TG
A 0.700 CausalMutation CLINVAR

dbSNP: rs370991693
rs370991693
0.020 GeneticVariation BEFREE Two novel mutations have been detected, and we show that TG mutation p.A2215D promotes the retention of TG within the endoplasmic reticulum and reduces TG synthesis and secretion, causing mild hypothyroidism. 19509106

2009

dbSNP: rs370991693
rs370991693
0.020 GeneticVariation BEFREE The brother with the IVS30 + 1G>T/A2215D mutation and the two siblings with the IVS30+1G>T mutation had fetal or neonatal goiter and all had hypothyroidism. 18631008

2008

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

1998