Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768299768
rs768299768
POMC
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.010 GeneticVariation BEFREE The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in the MC2R gene in one patient and p.Met1Ile mutation in the MRAP gene in another patient. 18426811

2008