rs45620037
A SNP in the SCN5A gene on chromosome 3. Its most notable genotype is A;G: Now: Probably benign. Formerly: increased risk for dilated cardiomyopathy
- Gene
- SCN5A
- Location
- Chr 338,613,787 (GRCh38)
- Highest magnitude
- 1.0Minor
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GMost notableBadNow: Probably benign. Formerly: increased risk for dilated cardiomyopathy
- A;ABadNow: Probably benign. Formerly: increased risk for dilated cardiomyopathy
SNPedia records rs45620037 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other SCN5A SNPs
- rs137854606A;CBrugada SyndromeVery important
- rs137854612C;TBrugada SyndromeVery important
- rs137854615A;GBrugada SyndromeVery important
- rs137854620C;TBrugada SyndromeVery important
- rs199473058C;TBrugada SyndromeVery important
- rs199473083C;TBrugada SyndromeVery important
- rs199473225A;GBrugada SyndromeVery important
- rs199473249C;GBrugada SyndromeVery important
Notes
From SNPedia
Show notes, about 220 words
rs45620037, also known as Thr220Ile or T220I, is a SNP in the cardiac sodium channel SCN5A gene. Individuals with a copy of the rs45620037(T) allele are considered at higher risk for dilated cardiomyopathy; see OMIM for discussion of one such patient. 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. Update as of 2015/2016: The classification in ClinVar has changed, and this variant is now considered either benign or of unclear significance. In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs). Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome. Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
A;G
See the discussion at rs45620037 for more information.
A;A
See the discussion at rs45620037 for more information.
Source and license
Adapted from rs45620037 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.