rs797044936

A SNP in the SHANK3 gene on chromosome 22. Its most notable genotype is -;G: Possible: Phelan-McDermid syndrome (autism-like)

Gene
SHANK3
Location
Chr 2250,721,512 (GRCh38)
Highest magnitude
5.1Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon/normalTypical · 0.0
  2. -;GMost notableBadPossible: Phelan-McDermid syndrome (autism-like)Very important · 5.1

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

Conditions, medicines and genes

Other SHANK3 SNPs

All SHANK3 SNPs

Notes

From SNPedia

Notes

rs797044936, also known as c.3679dupG or A1227Gfs*69, represents a rare mutation in the SHANK3 gene on chromosome 22. The minor allele of this SNP has been reported as associated with either autism or the closely related Phelan-McDermid syndrome.

-;G

see discussion at rs797044936

Source and license

Adapted from rs797044936 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.