rs762913101

A SNP in the MECR gene on chromosome 1. Its most notable genotype is C;T: Carrier of a MEPAN syndrome mutation

Gene
MECR
Location
Chr 129,202,004 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadCarrier of a MEPAN syndrome mutationImportant · 3.0

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

Other MECR SNPs

All MECR SNPs

Notes

From SNPedia

Notes

aka c.695G>A (p.Gly232Glu) See MECR page for extensive discussion

C;T

Unaffected in absence of a second MECR gene mutation

Source and license

Adapted from rs762913101 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.