Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.720 GeneticVariation BEFREE Adoption was more common in the 21OHD males (OR, 2.9; 95% CI, 1.0 to 7.9) and the SV and I172N subgroups. 28945916

2017
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		A 0.720 CausalMutation CLINVAR Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. 24667412

2014
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		A 0.720 CausalMutation CLINVAR Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia. 24671123

2014
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		A 0.720 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: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		A 0.720 CausalMutation CLINVAR Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman. 22270556

2012
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		A 0.720 CausalMutation CLINVAR Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 21098686

2011
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		A 0.720 CausalMutation CLINVAR Classic virilizing congenital adrenal hyperplasia presenting late: case series from Pakistan. 19750867

2009
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		0.720 GeneticVariation BEFREE The most frequent mutation in Romanian patients with 21-hydroxylase deficiency was I2G (43.9%), followed by deletions and large conversions (16.7%), I172N and the triple mutation (P30L+I2G+del8bp), accounting for 12.1% each, P30L (7.6%) and R356W (1.5%). 16046588

2005
dbSNP: rs6475
rs6475
CYP21A2
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		A 0.720 CausalMutation CLINVAR Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency. 3257825

1988