Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene. 25041270

2015
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea. 24778650

2014
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center. 24904866

2013
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 23359698

2013
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review. 23692712

2013
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Congenital adrenal hyperplasia. 15964450

2005
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Congenital adrenal hyperplasia. 12930931

2003
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 10857554

2000
dbSNP: rs6475
rs6475
CYP21A2
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		A 0.700 CausalMutation CLINVAR Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. 9521938

1998