rs397515353

A SNP in the CYP27A1 gene on chromosome 2. Its most notable genotype is A;G: Carrier of a cholestanol storage disease (CTX) mutation

Gene
CYP27A1
Location
Chr 2218,812,923 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a cholestanol storage disease (CTX) mutationImportant · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0

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

Other CYP27A1 SNPs

All CYP27A1 SNPs

Notes

From SNPedia

Notes

aka c.845-1G>A

A;G

Unaffected in absence of a second CYP27A1 gene mutation

Source and license

Adapted from rs397515353 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.