Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs45463492
rs45463492
POMC
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation BEFREE This is the first report of FGD associated with a compound heterozygous mutation of C21Y and R146H in the MC2R gene. 17128565

2006
dbSNP: rs45463492
rs45463492
POMC
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.020 GeneticVariation BEFREE We describe a girl born to consanguineous Pakistani parents with clinical and biochemical features of FGD who is homozygous for the R146H mutation of the adrenocorticotropic hormone (ACTH) receptor gene. 9550364

1998