rs172149856

plus

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)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49188641

Gene

TRPM4

is a	snp
is	mentioned by
dbSNP	rs172149856
dbSNP (classic)	rs172149856
ClinGen	rs172149856
ebi	rs172149856
HLI	rs172149856
Exac	rs172149856
Gnomad	rs172149856
Varsome	rs172149856
LitVar	rs172149856
Map	rs172149856
PheGenI	rs172149856
Biobank	rs172149856
1000 genomes	rs172149856
hgdp	rs172149856
ensembl	rs172149856
geneview	rs172149856
scholar	rs172149856
google	rs172149856
pharmgkb	rs172149856
gwascentral	rs172149856
openSNP	rs172149856
23andMe	rs172149856
SNPshot	rs172149856
SNPdbe	rs172149856
MSV3d	rs172149856
GWAS Ctlg	rs172149856

GMAF

0.0009183

Max Magnitude

5

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 not specified
Variation	info
Gene	TRPM4
CLNDBN	Progressive familial heart block type 1B Brugada syndrome not specified
Reversed	0
HGVS	NC_000019.9:g.49691898G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029158.5, RCV000208117.1, RCV000443548.1,