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rs201907325

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 7 Progressive familial heart block type 1B (Brugada syndrome)
(G;G) 0 common in clinvar


Make rs201907325(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position49182608
GeneTRPM4
is asnp
is mentioned by
dbSNPrs201907325
ebirs201907325
HLIrs201907325
Exacrs201907325
Varsomers201907325
Maprs201907325
PheGenIrs201907325
hapmaprs201907325
1000 genomesrs201907325
hgdprs201907325
ensemblrs201907325
gopubmedrs201907325
geneviewrs201907325
scholarrs201907325
googlers201907325
pharmgkbrs201907325
gwascentralrs201907325
openSNPrs201907325
23andMers201907325
23andMe allrs201907325
SNP Nexus

SNPshotrs201907325
SNPdbers201907325
MSV3drs201907325
GWAS Ctlgrs201907325
GMAF0.0009183
Max Magnitude7

rs201907325, also known as c.1294G>A, p.Ala432Thr and A432T, 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 rs201907325(A;A)
Alt rs201907325(A;A)
Reference rs201907325(G;G)
Significance Other
Disease Progressive familial heart block type 1B Brugada syndrome
Variation info
Gene TRPM4
CLNDBN Progressive familial heart block type 1B Brugada syndrome
Reversed 0
HGVS NC_000019.9:g.49685865G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029159.4, RCV000208441.1,