Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767700712
rs767700712
POMC
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation BEFREE Highlighting the significance of this gap in knowledge, a single POMC cysteine-to-phenylalanine mutation at position 28 (POMC-C28F) is defective for ER processing and causes early onset obesity in a dominant-negative manner in humans through an unclear mechanism. 29457782

2018
dbSNP: rs767700712
rs767700712
POMC
CUI: C0028754
Disease: Obesity
Obesity 		0.020 GeneticVariation BEFREE Two novel heterozygous missense mutations in POMC (C28F and L37F) were identified in unrelated probands with early-onset obesity and their overweight or obese family members. 18697863

2008