Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913495
rs121913495
GNAS
0.800 GeneticVariation UNIPROT Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. 12727968

2003
dbSNP: rs11554273
rs11554273
GNAS
0.800 GeneticVariation UNIPROT

dbSNP: rs11554273
rs11554273
GNAS
T 0.800 CausalMutation CLINVAR

dbSNP: rs11554273
rs11554273
GNAS
A 0.800 CausalMutation CLINVAR

dbSNP: rs121913495
rs121913495
GNAS
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057518907
rs1057518907
GNAS
T 0.700 CausalMutation CLINVAR

dbSNP: rs137854530
rs137854530
GNAS
G 0.700 CausalMutation CLINVAR

dbSNP: rs200945454
rs200945454
EDNRA
0.010 GeneticVariation BEFREE Using whole exome sequencing and several variant prioritization strategies based on disease network analysis, we identified Endothelin receptor type A (EDNRA) Ser420Thr mutation as a causative mutation of AIMAH. 23754170

2013
dbSNP: rs757196717
rs757196717
ADRA1A
0.010 GeneticVariation BEFREE Using whole exome sequencing and several variant prioritization strategies based on disease network analysis, we identified Endothelin receptor type A (EDNRA) Ser420Thr mutation as a causative mutation of AIMAH. 23754170

2013
dbSNP: rs767958027
rs767958027
ADRA2B
0.010 GeneticVariation BEFREE Using whole exome sequencing and several variant prioritization strategies based on disease network analysis, we identified Endothelin receptor type A (EDNRA) Ser420Thr mutation as a causative mutation of AIMAH. 23754170

2013
dbSNP: rs28926182
rs28926182
MC2R
0.010 GeneticVariation BEFREE A naturally occurring ACTH receptor [melanocortin 2 receptor (MC2R)] mutation (F278C) has been identified in a subject with ACTH-independent Cushing's syndrome. 12456795

2002