Variant: rs121918550 

    present in Gene: AAAS
    present in Chromosome: 12
    Position on Chromosome: 53309624
    Alleles of this Variant: A/G

rs121918550 in AAAS gene and Glucocorticoid deficiency with achalasia PMID 11159947 2001 Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

rs121918550 in AAAS gene and Multiple congenital anomalies PMID 18628786 2008 Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

PMID 26622478 2015 Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.

PMID 12752575 2003 Triple A syndrome: genotype-phenotype assessment.

PMID 6243664 1980 Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia.

PMID 16098009 2005 Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

PMID 1537368 1992 Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.