Source: ALL
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: 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

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 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: rs121912649
rs121912649
TG
0.800 GeneticVariation UNIPROT A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 16477365

2006
dbSNP: rs121912650
rs121912650
TG
0.800 GeneticVariation UNIPROT A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 16477365

2006
dbSNP: rs137854434
rs137854434
TG
0.800 GeneticVariation UNIPROT A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 16477365

2006
dbSNP: rs2076739
rs2076739
TG
0.800 GeneticVariation UNIPROT A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 16477365

2006
dbSNP: rs2076738
rs2076738
TG
0.700 GeneticVariation UNIPROT A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 16477365

2006
dbSNP: rs370991693
rs370991693
TG ; LOC105375768
0.700 GeneticVariation UNIPROT A novel compound heterozygous mutation in the thyroglobulin gene resulting in congenital goitrous hypothyroidism with high serum triiodothyronine levels. 16477365

2006
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: rs774274702
rs774274702
TG
A 0.700 CausalMutation CLINVAR Against all odds: blended phenotypes of three single-gene defects. 26813946

2016
dbSNP: rs121912649
rs121912649
TG
0.800 GeneticVariation UNIPROT Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. 17532758

2007
dbSNP: rs121912650
rs121912650
TG
0.800 GeneticVariation UNIPROT Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. 17532758

2007
dbSNP: rs137854434
rs137854434
TG
0.800 GeneticVariation UNIPROT Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene. 17532758

2007