rs201457110

A SNP in the DCHS1 gene on chromosome 11. Its most notable genotype is C;T: Mitral valve prolapse

Gene
DCHS1
Location
Chr 116,624,138 (GRCh38)
Highest magnitude
3.5Important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon/normalTypical · 0.0
  2. C;TMost notableBadMitral valve prolapseImportant · 3.5

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

Conditions, medicines and genes

Other DCHS1 SNPs

All DCHS1 SNPs

Notes

From SNPedia

Notes

rs201457110, also known as c.7538G>A, p.Arg2513His and R2513H, is a mutation in the DCHS1 gene on chromosome 11. Sequencing a family with several members affected by mitral valve prolapse (MVP) lead to the discovery of the rare rs201457110 mutation. Acting as an autosomal dominant, the rs201457110(T) allele was reported to be a causative mutation for MVP.

C;T

See discussion at rs201457110

Source and license

Adapted from rs201457110 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.