rs45546039

A SNP in the SCN5A gene on chromosome 3. Its most notable genotype is T;T: associated with cardiomyopathy and arrhythmias

Gene
SCN5A
Location
Chr 338,613,781 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadassociated with cardiomyopathy and arrhythmiasVery important · 5.0
  2. C;TBadRomano-Ward Long QT SyndromeVery important · 5.0
  3. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs45546039 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other SCN5A SNPs

All SCN5A SNPs

Notes

From SNPedia

Notes

rs45546039, also known as c.665G>A, Arg222Gln or R222Q, is a SNP in the cardiac sodium channel SCN5A gene. The rs45546039(A) allele is considered highly associated with dilated cardiomyopathy (CMD) and possibly long QT syndrome; see OMIM for discussion. 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.

T;T

Individuals with even one copy of the rs45546039(A) allele are considered at higher risk for dilated cardiomyopathy; see discussion at rs45546039.

Source and license

Adapted from rs45546039 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.