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rs172149856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 5 May - or may not - lead to progressive familial heart block type 1B
(G;G) 0 common in clinvar


Make rs172149856(A;A)
ReferenceGRCh38 38.1/141
Chromosome19
Position49188641
GeneTRPM4
is asnp
is mentioned by
dbSNPrs172149856
ebirs172149856
HLIrs172149856
Exacrs172149856
Varsomers172149856
Maprs172149856
PheGenIrs172149856
hapmaprs172149856
1000 genomesrs172149856
hgdprs172149856
ensemblrs172149856
gopubmedrs172149856
geneviewrs172149856
scholarrs172149856
googlers172149856
pharmgkbrs172149856
gwascentralrs172149856
openSNPrs172149856
23andMers172149856
23andMe allrs172149856
SNP Nexus

SNPshotrs172149856
SNPdbers172149856
MSV3drs172149856
GWAS Ctlgrs172149856
GMAF0.0009183
Max Magnitude5

rs172149856, also known as c.1744G>A, p.Gly582Ser and G582S, represents a rare variant in the TRPM4 gene on chromosome 19.

The minor allele for this SNP may be associated with progressive familial heart block type 1B, but it is tagged in ClinVar as of "uncertain significance". An additional mention is found in OMIM 606936.0005.


ClinVar
Risk rs172149856(A;A)
Alt rs172149856(A;A)
Reference rs172149856(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.49691898G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000029158.4, RCV000208117.1,