Variant: rs6467 

    present in Gene: CYP21A2
    present in Chromosome: 6
    Position on Chromosome: 32039081
    Alleles of this Variant: C/A;G;T

rs6467 in CYP21A2 gene and Congenital adrenal hyperplasia due to 21 hydroxylase deficiency PMID 8081391 1994 Mutations in steroid 21-hydroxylase (CYP21).

PMID 2845408 1988 Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.

PMID 1644925 1992 Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

rs6467 in CYP21A2 gene and Multiple congenital anomalies PMID 12930931 2003 Congenital adrenal hyperplasia.

PMID 10857554 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 15964450 2005 Congenital adrenal hyperplasia.

PMID 24904866 2013 Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

PMID 25041270 2015 The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

PMID 24778650 2014 Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

PMID 9521938 1998 Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

PMID 23692712 2013 Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.