rs45471994
A SNP in the SCN5A gene on chromosome 3. Its most notable genotype is C;C: common in clinvar
- Gene
- SCN5A
- Location
- Chr 338,613,752 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs45471994 on the minus strand: (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
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
Notes
rs45471994, also known as Val232Ile or V232I, is a SNP in the cardiac sodium channel SCN5A gene. Some individuals carry two mutations on the same (gene) allele, consisting of rs45471994(A) and rs41313031(A). When exposed to lidocaine, these "double mutant" individuals may develop ventricular tachycardia consistent with Brugada syndrome. Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
Source and license
Adapted from rs45471994 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.