Gene: CYP21A2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201552310
rs201552310
CYP21A2
A 0.800 CausalMutation CLINVAR

dbSNP: rs6471
rs6471
CYP21A2
C 0.720 CausalMutation CLINVAR

dbSNP: rs267606757
rs267606757
CYP21A2
C 0.710 CausalMutation CLINVAR

dbSNP: rs397509367
rs397509367
CYP21A2 ; TNXB
C 0.710 CausalMutation CLINVAR

dbSNP: rs6445
rs6445
CYP21A2 ; TNXB
T 0.710 CausalMutation CLINVAR

dbSNP: rs1429901248
rs1429901248
CYP21A2 ; TNXB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs151344503
rs151344503
CYP21A2 ; TNXB
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554304513
rs1554304513
CYP21A2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554305880
rs1554305880
CYP21A2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs202242769
rs202242769
CYP21A2 ; TNXB
A 0.700 CausalMutation CLINVAR

dbSNP: rs267606756
rs267606756
CYP21A2
GT 0.700 CausalMutation CLINVAR

dbSNP: rs886038207
rs886038207
CYP21A2
A 0.700 GeneticVariation CLINVAR

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

1992
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1644925

1992
dbSNP: rs6467
rs6467
CYP21A2
G 0.700 CausalMutation CLINVAR Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 1644925

1992
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively. 1864962

1991
dbSNP: rs9378251
rs9378251
CYP21A2
T 0.730 CausalMutation CLINVAR A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele. 2072928

1991
dbSNP: rs6471
rs6471
CYP21A2
T 0.720 CausalMutation CLINVAR A single amino acid substitution (Val281----Leu) present in patients with mild "nonclassical" 21-hydroxylase deficiency resulted in an enzyme with 20-50% of normal activity. 2249999

1990
dbSNP: rs786204728
rs786204728
CYP21A2
ACGAGGAGAA 0.700 CausalMutation CLINVAR Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. 2249999

1990
dbSNP: rs7769409
rs7769409
CYP21A2
T 0.810 CausalMutation CLINVAR A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency. 2303461

1990
dbSNP: rs6467
rs6467
CYP21A2
G 0.700 CausalMutation CLINVAR Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. 2845408

1988
dbSNP: rs786204728
rs786204728
CYP21A2
ACGAGGAGAA 0.700 CausalMutation CLINVAR Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. 2845408

1988
dbSNP: rs6475
rs6475
CYP21A2
A 0.720 CausalMutation CLINVAR Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency. 3257825

1988
dbSNP: rs7755898
rs7755898
CYP21A2
T 0.740 CausalMutation CLINVAR Nonsense mutation causing steroid 21-hydroxylase deficiency. 3267225

1988
dbSNP: rs387906510
rs387906510
CYP21A2
G 0.700 CausalMutation CLINVAR Mutations in steroid 21-hydroxylase (CYP21). 8081391

1994