rs137854608

Orientation

minus

Stabilized

minus

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

Make rs137854608(A;A)

Make rs137854608(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38609776

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs137854608
dbSNP (classic)	rs137854608
ClinGen	rs137854608
ebi	rs137854608
HLI	rs137854608
Exac	rs137854608
Gnomad	rs137854608
Varsome	rs137854608
LitVar	rs137854608
Map	rs137854608
PheGenI	rs137854608
Biobank	rs137854608
1000 genomes	rs137854608
hgdp	rs137854608
ensembl	rs137854608
geneview	rs137854608
scholar	rs137854608
google	rs137854608
pharmgkb	rs137854608
gwascentral	rs137854608
openSNP	rs137854608
23andMe	rs137854608
SNPshot	rs137854608
SNPdbe	rs137854608
MSV3d	rs137854608
GWAS Ctlg	rs137854608

Max Magnitude

0

OMIM	600163
Desc
Variant	0018
Related	also

ClinVar
Risk	rs137854608(A;A)
Alt	rs137854608(A;A)
Reference	Rs137854608(G;G)
Significance	Pathogenic
Disease	Progressive familial heart block type 1A Atrioventricular block not specified Dilated cardiomyopathy Hemiplegia Migraine
Variation	info
Gene	SCN5A
CLNDBN	Progressive familial heart block type 1A Atrioventricular block not specified Dilated cardiomyopathy Hemiplegia Migraine
Reversed	1
HGVS	NC_000003.11:g.38651267C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009985.4, RCV000058858.3, RCV000151803.2, RCV000415287.1,

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

[PMID 19056759] Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy.