Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763679435
rs763679435
TSHR ; LOC101928462
0.010 GeneticVariation BEFREE A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects. 24945425

2014