rs200038418
A SNP in the TRPM4 gene on chromosome 19. Its most notable genotype is A;G: Progressive familial heart block type 1B (Brugada syndrome)
- Gene
- TRPM4
- Location
- Chr 1949,196,760 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadProgressive familial heart block type 1B (Brugada syndrome)
- G;GGoodcommon in clinvar
On SNPedia: (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other TRPM4 SNPs
- rs172151858A;GProgressive familial heart block type 1B (Brugada syndrome)Very important
- rs201907325A;GProgressive familial heart block type 1B (Brugada syndrome)Very important
- rs267607142A;GProgressive familial heart block type 1B (Brugada syndrome)Very important
- rs387907216C;TProgressive familial heart block type 1B (Brugada syndrome)Very important
- rs172149856A;GMay - or may not - lead to progressive familial heart block type 1BVery important
Notes
From SNPedia
Notes
rs200038418, also known as c.2531G>A, p.Gly844Asp and G844D, represents a rare mutation in the TRPM4 gene. The minor allele is considered causative in a dominant manner for progressive familial heart block type 1B in ClinVar.
A;G
see discussion at rs200038418
Source and license
Adapted from rs200038418 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.