rs557205452

A SNP in the PRICKLE1 gene on chromosome 12. Its most notable genotype is -;ATC: Carrier of a progressive myoclonic epilepsy-1B mutation

Gene
PRICKLE1
Location
Chr 1242,460,025 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;ATCMost notableBadCarrier of a progressive myoclonic epilepsy-1B mutationImportant · 3.0
  2. ATC;ATCGoodcommon/normalTypical · 0.0

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

Other PRICKLE1 SNPs

All PRICKLE1 SNPs

Notes

From SNPedia

Notes

aka Asp760del

-;ATC

Unaffected in absence of a second PRICKLE1 gene mutation

Source and license

Adapted from rs557205452 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.