rs200038418

Orientation

plus

Stabilized

plus

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

Make rs200038418(A;A)

Reference

GRCh38 38.1/141

Chromosome

19

Position

49196760

Gene

TRPM4

is a	snp
is	mentioned by
dbSNP	rs200038418
dbSNP (classic)	rs200038418
ClinGen	rs200038418
ebi	rs200038418
HLI	rs200038418
Exac	rs200038418
Gnomad	rs200038418
Varsome	rs200038418
LitVar	rs200038418
Map	rs200038418
PheGenI	rs200038418
Biobank	rs200038418
1000 genomes	rs200038418
hgdp	rs200038418
ensembl	rs200038418
geneview	rs200038418
scholar	rs200038418
google	rs200038418
pharmgkb	rs200038418
gwascentral	rs200038418
openSNP	rs200038418
23andMe	rs200038418
SNPshot	rs200038418
SNPdbe	rs200038418
MSV3d	rs200038418
GWAS Ctlg	rs200038418

GMAF

0.0004591

Max Magnitude

7

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;A) rs200038418(T;T)
Alt	rs200038418(A;A) rs200038418(T;T)
Reference	Rs200038418(G;G)
Significance	Other
Disease	Progressive familial heart block type 1B Cardiovascular phenotype not provided not specified
Variation	info
Gene	TRPM4
CLNDBN	Progressive familial heart block type 1B Cardiovascular phenotype not provided not specified
Reversed	0
HGVS	NC_000019.9:g.49700017G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000029161.2, RCV000249699.1, RCV000434894.1, RCV000479846.1,