Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.020 GeneticVariation BEFREE The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. 21714469

2010
dbSNP: rs1991517
rs1991517
TSHR ; LOC101928462
0.020 GeneticVariation BEFREE High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism. 21714466

2010