rs137854603

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs137854603(A;A)

Make rs137854603(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38550602

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs137854603
dbSNP (classic)	rs137854603
ClinGen	rs137854603
ebi	rs137854603
HLI	rs137854603
Exac	rs137854603
Gnomad	rs137854603
Varsome	rs137854603
LitVar	rs137854603
Map	rs137854603
PheGenI	rs137854603
Biobank	rs137854603
1000 genomes	rs137854603
hgdp	rs137854603
ensembl	rs137854603
geneview	rs137854603
scholar	rs137854603
google	rs137854603
pharmgkb	rs137854603
gwascentral	rs137854603
openSNP	rs137854603
23andMe	rs137854603
SNPshot	rs137854603
SNPdbe	rs137854603
MSV3d	rs137854603
GWAS Ctlg	rs137854603

Max Magnitude

0

OMIM	600163
Desc
Variant	0012
Related	also

ClinVar
Risk	rs137854603(A;A)
Alt	rs137854603(A;A)
Reference	Rs137854603(G;G)
Significance	Pathogenic
Disease	Brugada syndrome 1 Brugada syndrome not provided
Variation	info
Gene	SCN5A
CLNDBN	Brugada syndrome 1 Brugada syndrome not provided
Reversed	1
HGVS	NC_000003.11:g.38592093C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009978.4, RCV000058806.2, RCV000420298.1,

[PMID 10690282] Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.

[PMID 12106943] Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.

[PMID 19251209] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

[PMID 20129283 ] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.