rs752176040

A SNP in the TMCO1 gene on chromosome 1. Its most notable genotype is -;CT: Carrier of a mutation for cerebrofaciothoracic dysplasia

Gene
TMCO1
Location
Chr 1165,768,200 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;CTMost notableBadCarrier of a mutation for cerebrofaciothoracic dysplasiaImportant · 3.0
  2. CT;CTGoodcommon in clinvarTypical · 0.0

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

Notes

From SNPedia

Notes

aka c.292_293delAG (p.Ser98Terfs) Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.

-;CT

Unaffected in absence of a second TMCO1 gene mutation

Source and license

Adapted from rs752176040 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.