rs12530380

A SNP in the CYP21A2 gene on chromosome 6. Its most notable genotype is A;A: Miscall likely if from 23andMe user data

Gene
CYP21A2
Location
Chr 632,039,810 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadMiscall likely if from 23andMe user dataImportant · 3.00% of people
  2. T;TGoodcommon in clinvarTypical · 0.0100% of people

On SNPedia: (A;A), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageA;A 0% T;T 100%
  • European ancestry (Utah)A;A 0% T;T 100%
  • Han Chinese (Beijing)A;A 0% T;T 100%
  • Japanese (Tokyo)A;A 0% T;T 100%
  • Yoruba (Nigeria)A;A 0% T;T 100%

Conditions, medicines and genes

Notes

From SNPedia

Notes

A;A

Likely miscall if data is from 23andMe; otherwise, see congenital adrenal hyperplasia

Source and license

Adapted from rs12530380 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.