Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908866
rs121908866
TSHR ; LOC101928462
A 0.700 CausalMutation CLINVAR Congenital hypothyroidism and apparent athyreosis with compound heterozygosity or compensated hypothyroidism with probable hemizygosity for inactivating mutations of the TSH receptor. 14725684

2004
dbSNP: rs121908866
rs121908866
TSHR ; LOC101928462
A 0.700 CausalMutation CLINVAR The W546X mutation of the thyrotropin receptor gene: potential major contributor to thyroid dysfunction in a Caucasian population. 12629076

2003
dbSNP: rs121908866
rs121908866
TSHR ; LOC101928462
A 0.700 CausalMutation CLINVAR Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. 9100579

1997
dbSNP: rs121908866
rs121908866
TSHR ; LOC101928462
A 0.700 CausalMutation CLINVAR Four families with loss of function mutations of the thyrotropin receptor. 8954020

1996