Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917883
rs121917883
GHSR
0.010 GeneticVariation BEFREE Recently in several patients, a missense mutation (p.A204E) resulting in a complete loss of GHSR constitutive activity has been implicated in short stature with dominant transmission. 19789204

2009