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rs200038418

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 rs200038418(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position49196760
GeneTRPM4
is asnp
is mentioned by
dbSNPrs200038418
ebirs200038418
HLIrs200038418
Exacrs200038418
Varsomers200038418
Maprs200038418
PheGenIrs200038418
hapmaprs200038418
1000 genomesrs200038418
hgdprs200038418
ensemblrs200038418
gopubmedrs200038418
geneviewrs200038418
scholarrs200038418
googlers200038418
pharmgkbrs200038418
gwascentralrs200038418
openSNPrs200038418
23andMers200038418
23andMe allrs200038418
SNP Nexus

SNPshotrs200038418
SNPdbers200038418
MSV3drs200038418
GWAS Ctlgrs200038418
GMAF0.0004591
Max Magnitude7

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.

ClinVar
Risk rs200038418(A,T;A,T)
Alt rs200038418(A,T;A,T)
Reference rs200038418(G;G)
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.49700017G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029161.2,