rs6467
A SNP in the CYP21A2 gene on chromosome 6. Its most notable genotype is C;G: Carrier of allele for congenital adrenal hyperplasia
- Gene
- CYP21A2
- Location
- Chr 632,039,081 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 34%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;GMost notableBadCarrier of allele for congenital adrenal hyperplasia
- A;GBadCarrier of allele for congenital adrenal hyperplasia
- C;CGoodcommon in clinvar
- A;CGoodpolymorphism
- A;AGoodcommon/normal
SNPedia records rs6467 on the minus strand: (C;G), (C;T), (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 5 HapMap populations.
- AverageC;G 0% A;G 0% C;C 10% A;C 46% A;A 43%
- Han Chinese (Beijing)C;G 0% A;G 0% C;C 11% A;C 44% A;A 46%
- Japanese (Tokyo)C;G 0% A;G 0% C;C 13% A;C 43% A;A 44%
- Yoruba (Nigeria)C;G 0% A;G 0% C;C 5% A;C 44% A;A 51%
- Chinese (Denver)C;G 0% A;G 0% C;C 11% A;C 50% A;A 39%
- Luhya (Kenya)C;G 0% A;G 0% C;C 13% A;C 50% A;A 37%
Related
Conditions, medicines and genes
Other CYP21A2 SNPs
- rs6445T;TCongenital adrenal hyperplasiaVery important
- rs6471T;TCongenital adrenal hyperplasiaVery important
- rs6475A;ACongenital adrenal hyperplasiaVery important
- rs6476A;ACongenital adrenal hyperplasiaVery important
- rs7755898T;TCongenital adrenal hyperplasiaVery important
- rs151344503A;ACongenital adrenal hyperplasiaVery important
- rs151344505A;ACongenital adrenal hyperplasiaVery important
- rs201552310A;ACongenital adrenal hyperplasiaVery important
Notes
From SNPedia
Show notes, about 200 words
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.
C;G
See discussion at Congenital adrenal hyperplasia
A;G
See discussion at Congenital adrenal hyperplasia
A;C
This genotype represents a person carrying one of each of the two common (and benign) polymorphisms known for this SNP. Note which strand this SNP is defined on.
Source and license
Adapted from rs6467 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.