Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894657
rs104894657
MC2R
0.800 GeneticVariation UNIPROT Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. 12213892

2002
dbSNP: rs104894657
rs104894657
MC2R
0.800 GeneticVariation UNIPROT Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH. 10971458

2000
dbSNP: rs104894657
rs104894657
MC2R
0.800 GeneticVariation UNIPROT Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. 8636348

1996
dbSNP: rs104894657
rs104894657
MC2R
0.800 GeneticVariation UNIPROT Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. 8227361

1993
dbSNP: rs104894657
rs104894657
MC2R
0.800 GeneticVariation UNIPROT Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. 8094489

1993
dbSNP: rs104894657
rs104894657
MC2R
A 0.800 CausalMutation CLINVAR