rs137854619

Orientation

minus

Stabilized

minus

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

Make rs137854619(A;A)

Make rs137854619(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38550917

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs137854619
dbSNP (classic)	rs137854619
ClinGen	rs137854619
ebi	rs137854619
HLI	rs137854619
Exac	rs137854619
Gnomad	rs137854619
Varsome	rs137854619
LitVar	rs137854619
Map	rs137854619
PheGenI	rs137854619
Biobank	rs137854619
1000 genomes	rs137854619
hgdp	rs137854619
ensembl	rs137854619
geneview	rs137854619
scholar	rs137854619
google	rs137854619
pharmgkb	rs137854619
gwascentral	rs137854619
openSNP	rs137854619
23andMe	rs137854619
SNPshot	rs137854619
SNPdbe	rs137854619
MSV3d	rs137854619
GWAS Ctlg	rs137854619

Max Magnitude

0

OMIM	600163
Desc
Variant	0035
Related	also

ClinVar
Risk	rs137854619(A;A)
Alt	rs137854619(A;A)
Reference	Rs137854619(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 2/3 Congenital long QT syndrome Long QT syndrome not specified Brugada syndrome
Variation	info
Gene	SCN5A
CLNDBN	Long QT syndrome 2/3, digenic Congenital long QT syndrome Long QT syndrome not specified Brugada syndrome
Reversed	1
HGVS	NC_000003.11:g.38592408C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010005.2, RCV000058782.3, RCV000171695.1, RCV000183199.3, RCV000203774.2,

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.