Have questions? Visit https://www.reddit.com/r/SNPedia

rs172151858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 7 Progressive familial heart block type 1B (Brugada syndrome)
Make rs172151858(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position49200395
GeneTRPM4
is asnp
is mentioned by
dbSNPrs172151858
ebirs172151858
HLIrs172151858
Exacrs172151858
Varsomers172151858
Maprs172151858
PheGenIrs172151858
hapmaprs172151858
1000 genomesrs172151858
hgdprs172151858
ensemblrs172151858
gopubmedrs172151858
geneviewrs172151858
scholarrs172151858
googlers172151858
pharmgkbrs172151858
gwascentralrs172151858
openSNPrs172151858
23andMers172151858
23andMe allrs172151858
SNP Nexus

SNPshotrs172151858
SNPdbers172151858
MSV3drs172151858
GWAS Ctlgrs172151858
Max Magnitude7

rs172151858, also known as c.2741A>G, p.Lys914Arg and K914R, 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.

ClinVar
Risk rs172151858(G;G)
Alt rs172151858(G;G)
Reference rs172151858(A;A)
Significance Pathogenic
Disease Progressive familial heart block type 1B
Variation info
Gene TRPM4
CLNDBN Progressive familial heart block type 1B
Reversed 0
HGVS NC_000019.9:g.49703652A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000029162.2,