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rs6467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 3 Carrier of allele for congenital adrenal hyperplasia
(C;T) 3 Carrier of allele for congenital adrenal hyperplasia
(G;G) 0 common in clinvar
(G;T) 0 polymorphism
(T;T) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome6
Position32039081
GeneCYP21A2
is asnp
is mentioned by
dbSNPrs6467
ebirs6467
HLIrs6467
Exacrs6467
Varsomers6467
Maprs6467
PheGenIrs6467
hapmaprs6467
1000 genomesrs6467
hgdprs6467
ensemblrs6467
gopubmedrs6467
geneviewrs6467
scholarrs6467
googlers6467
pharmgkbrs6467
gwascentralrs6467
openSNPrs6467
23andMers6467
23andMe allrs6467
SNP Nexus

SNPshotrs6467
SNPdbers6467
MSV3drs6467
GWAS Ctlgrs6467
GMAF0.3356
Max Magnitude3

Note that this SNP is unusual in at least two regards. First, it is defined in both dbSNP and here in SNPedia (currently at least) as being on the minus strand, even though the vast majority of its fellow CYP21A2 gene SNPs are defined on the plus strand. The literature and most (other) databases define this SNP based on the plus strand.

Second, there are three alleles for this SNP; as defined on the minus strand, there are plenty of individuals walking around with rs6467(G) and rs6467(T) alleles, both of which lead to fully functional 21-hydroxylase (the enzyme encoded by the CYP21A2 gene), and there are also some individuals carrying a rs6467(C) allele, which severely reduces enzyme activity.

The rs6467(T) polymorphism defines the CYP21A2*1B allele according to the CYP21A2 Nomenclature table. The allele with impaired function, rs6467(C), is the CYP21A2*9 allele.

See further details at congenital adrenal hyperplasia.

? (G;G) (G;T) (T;T) 28
[PMID 19654554OA-icon.png] The Major Histocompatibility Complex Conserved Extended Haplotype 8.1 in AIDS-Related Non-Hodgkin Lymphoma


ClinVar
Risk rs6467(C,T;C,T)
Alt rs6467(C,T;C,T)
Reference rs6467(G;G)
Significance Pathogenic
Disease not specified 21-hydroxylase deficiency
Variation info
Gene CYP21A2
CLNDBN not specified 21-hydroxylase deficiency
Reversed 1
HGVS NC_000006.11:g.32006858C>A; NC_000006.11:g.32006858C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000177075.1, RCV000012939.2,



[PMID 25249698] CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles