rs63750743

A SNP in the TMEM43 gene on chromosome 3. Its most notable genotype is C;T: Arrhythmogenic right ventricular dysplasia

Gene
TMEM43
Location
Chr 314,141,665 (GRCh38)
Highest magnitude
6.7Very important
Tested on
23andMe, AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadArrhythmogenic right ventricular dysplasiaVery important · 6.7
  3. T;TBadarrhythmogenic right ventricular dysplasia susceptibilityVery important · 5.0

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

Other TMEM43 SNPs

All TMEM43 SNPs

Notes

From SNPedia

Show notes, about 130 words

rs63750743, also known as Ser358Leu or S358L, is a SNP in the TMEM43 gene on chromosome 3. Carrying a single rs63750743(T) allele is reported to lead, sooner or later, to arrhythmogenic right ventricular dysplasia type 5 (ARVD5). This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. Without naming the company that produced the data, this paper cites one example of a false positive finding for this SNP in direct-to-consumer genotyping data. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

T;T

see discussion at rs63750743

Source and license

Adapted from rs63750743 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.