rs6161

A SNP in the CYP11A1 gene on chromosome 15. Its most notable genotype is C;T: Carrier of a likely primary adrenal insufficiency mutation

Gene
CYP11A1
Location
Chr 1574,343,027 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA, FamilyTreeDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;TMost notableBadCarrier of a likely primary adrenal insufficiency mutationImportant · 3.01% of people
  2. C;CGoodcommon in clinvarTypical · 0.099% of people

SNPedia records rs6161 on the minus strand: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 7 HapMap populations.

  • AverageC;T 1% C;C 99%
  • European ancestry (Utah)C;T <1% C;C 99%
  • Han Chinese (Beijing)C;T <1% C;C 99%
  • Japanese (Tokyo)C;T <1% C;C 99%
  • Yoruba (Nigeria)C;T <1% C;C 99%
  • Luhya (Kenya)C;T <1% C;C 99%
  • Mexican ancestry (Los Angeles)C;T 4% C;C 97%
  • TuscanC;T 1% C;C 99%

Notes

From SNPedia

Notes

aka c.940G>A (p.Glu314Lys or E314K) Although some authors feel this may be a benign variant, concludes that this "relatively common and predicted "benign" variant in CYP11A1 is a major contributor to PAI of unknown etiology, especially in European populations".

C;T

Unaffected in absence of a second CYP11A1 gene mutation; see text on main rs-page.

Source and license

Adapted from rs6161 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.