rs886039608

A SNP in the PRUNE1 gene on chromosome 1. Its most notable genotype is A;G: Carrier of a mutation for a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies

Gene
PRUNE1
Location
Chr 1151,025,513 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadCarrier of a mutation for a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomaliesImportant · 3.0

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

Notes

From SNPedia

Notes

aka c.521-2A>G A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families

A;G

Unaffected in absence of a second PRUNE1 gene mutation

Source and license

Adapted from rs886039608 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.