Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852685
rs137852685
NKX2-5
0.800 GeneticVariation UNIPROT Missense mutation in the transcription factor NKX2-5: a novel molecular event in the pathogenesis of thyroid dysgenesis. 16418214

2006
dbSNP: rs137852685
rs137852685
NKX2-5
G 0.800 CausalMutation CLINVAR