rs137854613

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Romano-Ward Long QT Syndrome

Make rs137854613(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38551505

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs137854613
dbSNP (classic)	rs137854613
ClinGen	rs137854613
ebi	rs137854613
HLI	rs137854613
Exac	rs137854613
Gnomad	rs137854613
Varsome	rs137854613
LitVar	rs137854613
Map	rs137854613
PheGenI	rs137854613
Biobank	rs137854613
1000 genomes	rs137854613
hgdp	rs137854613
ensembl	rs137854613
geneview	rs137854613
scholar	rs137854613
google	rs137854613
pharmgkb	rs137854613
gwascentral	rs137854613
openSNP	rs137854613
23andMe	rs137854613
SNPshot	rs137854613
SNPdbe	rs137854613
MSV3d	rs137854613
GWAS Ctlg	rs137854613

Max Magnitude

5

OMIM	600163
Desc
Variant	0028
Related	also

ClinVar
Risk	rs137854613(A;A) rs137854613(T;T)
Alt	rs137854613(A;A) rs137854613(T;T)
Reference	Rs137854613(C;C)
Significance	Pathogenic
Disease	Sick sinus syndrome 1 not provided Arrhythmogenic right ventricular dysplasia/cardiomyopathy Long QT syndrome 3
Variation	info
Gene	SCN5A
CLNDBN	Sick sinus syndrome 1, autosomal recessive not provided Arrhythmogenic right ventricular dysplasia/cardiomyopathy Long QT syndrome 3
Reversed	1
HGVS	NC_000003.11:g.38592996G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009968.5, RCV000183087.3, RCV000465149.1, RCV000477950.1,