Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1237859972
rs1237859972
POMC
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		0.010 GeneticVariation BEFREE A patient homozygous for p.R160H was previously reported in a patient with CPHD</span>, EPP, APH. 27000987

2016