Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9378251
rs9378251
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		T 0.730 CausalMutation CLINVAR Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

2013
dbSNP: rs9378251
rs9378251
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		T 0.730 CausalMutation CLINVAR Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation. 23142378

2013
dbSNP: rs9378251
rs9378251
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		T 0.730 CausalMutation CLINVAR CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. 16427797

2006
dbSNP: rs9378251
rs9378251
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		T 0.730 CausalMutation CLINVAR Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. 9215318

1997
dbSNP: rs9378251
rs9378251
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		T 0.730 CausalMutation CLINVAR Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1644925

1992
dbSNP: rs9378251
rs9378251
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		T 0.730 CausalMutation CLINVAR A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. 2072928

1991