Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908872
rs121908872
TSHR ; LOC101928462
A 0.700 GeneticVariation CLINVAR Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome. 27255745

2016
dbSNP: rs121908872
rs121908872
TSHR ; LOC101928462
A 0.700 GeneticVariation CLINVAR TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis. 22876533

2012
dbSNP: rs121908872
rs121908872
TSHR ; LOC101928462
A 0.700 GeneticVariation CLINVAR Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism. 20718767

2010
dbSNP: rs121908872
rs121908872
TSHR ; LOC101928462
A 0.700 GeneticVariation 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: rs121908872
rs121908872
TSHR ; LOC101928462
A 0.700 GeneticVariation CLINVAR Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland. 9185526

1997
dbSNP: rs121908872
rs121908872
TSHR ; LOC101928462
A 0.700 CausalMutation CLINVAR