Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917839
rs121917839
PROP1
0.020 GeneticVariation BEFREE The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency. 17526949

2006
dbSNP: rs121917839
rs121917839
PROP1
0.020 GeneticVariation BEFREE A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty. 12153609

2002