rs137854607

Orientation

minus

Stabilized

minus

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

Make rs137854607(A;A)

Make rs137854607(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38554309

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs137854607
dbSNP (classic)	rs137854607
ClinGen	rs137854607
ebi	rs137854607
HLI	rs137854607
Exac	rs137854607
Gnomad	rs137854607
Varsome	rs137854607
LitVar	rs137854607
Map	rs137854607
PheGenI	rs137854607
Biobank	rs137854607
1000 genomes	rs137854607
hgdp	rs137854607
ensembl	rs137854607
geneview	rs137854607
scholar	rs137854607
google	rs137854607
pharmgkb	rs137854607
gwascentral	rs137854607
openSNP	rs137854607
23andMe	rs137854607
SNPshot	rs137854607
SNPdbe	rs137854607
MSV3d	rs137854607
GWAS Ctlg	rs137854607

Max Magnitude

0

OMIM	600163
Desc
Variant	0017
Related	also

OMIM	600163
Desc
Variant	0039
Related	also

ClinVar
Risk	rs137854607(A;A) rs137854607(C;C)
Alt	rs137854607(A;A) rs137854607(C;C)
Reference	Rs137854607(G;G)
Significance	Pathogenic
Disease	Dilated cardiomyopathy 1E Dilated cardiomyopathy Progressive familial heart block type 1A Atrioventricular block not provided Brugada syndrome
Variation	info
Gene	SCN5A
CLNDBN	Dilated cardiomyopathy 1E Dilated cardiomyopathy Progressive familial heart block type 1A Atrioventricular block not provided Brugada syndrome
Reversed	1
HGVS	NC_000003.11:g.38595800C>G; NC_000003.11:g.38595800C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010009.3, RCV000058706.3, RCV000009983.3, RCV000058705.3, RCV000183084.3, RCV000469185.1,

[PMID 15671429] Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

[PMID 18048769] Divergent biophysical defects caused by mutant sodium channels in dilated cardiomyopathy with arrhythmia.

[PMID 11804990] Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block.