Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766234350
rs766234350
HESX1
0.020 GeneticVariation BEFREE A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH. 27000987

2016
dbSNP: rs766234350
rs766234350
HESX1
0.020 GeneticVariation BEFREE These data demonstrate that homozygous HESX1 mutation causing an R160H substitution can result in panhypopituitarism without midline defects. 22145475

2011