rs397516784

A SNP in the CEP85L gene on chromosome 6. Its most notable genotype is -;AGA: Cardiomyopathy (predicted); arrhythmogenic right ventricular cardiomyopathy, type 9

Gene
CEP85L
Location
Chr 6118,558,961 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;AGAMost notableBadCardiomyopathy (predicted); arrhythmogenic right ventricular cardiomyopathy, type 9Very important · 6.0
  2. AAG;AAGGoodcommon in clinvarTypical · 0.0
  3. AGA;AGAGoodcommon in clinvarTypical · 0.0

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

Other CEP85L SNPs

All CEP85L SNPs

Notes

From SNPedia

Notes

aka c.40_42delAGA (p.Arg14delAGA)

-;AGA

Familial dilated cardiomyopathy with several associated consequences has been reported for this genotype.

Source and license

Adapted from rs397516784 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.