Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917845
rs121917845
PROP1
T 0.700 GeneticVariation CLINVAR W194XProp1 and S156insTProp1, both of which have intact DNA-binding domain, show a different DNA-binding activity to the Prop1-binding element in human Pit-1 gene. 20381582

2010
dbSNP: rs121917845
rs121917845
PROP1
T 0.700 GeneticVariation CLINVAR An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain. 15941866

2005
dbSNP: rs121917845
rs121917845
PROP1
T 0.700 CausalMutation CLINVAR