rs199473147

Orientation

minus

Stabilized

minus

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

Make rs199473147(C;T)

Make rs199473147(T;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

38597889

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs199473147
dbSNP (classic)	rs199473147
ClinGen	rs199473147
ebi	rs199473147
HLI	rs199473147
Exac	rs199473147
Gnomad	rs199473147
Varsome	rs199473147
LitVar	rs199473147
Map	rs199473147
PheGenI	rs199473147
Biobank	rs199473147
1000 genomes	rs199473147
hgdp	rs199473147
ensembl	rs199473147
geneview	rs199473147
scholar	rs199473147
google	rs199473147
pharmgkb	rs199473147
gwascentral	rs199473147
openSNP	rs199473147
23andMe	rs199473147
SNPshot	rs199473147
SNPdbe	rs199473147
MSV3d	rs199473147
GWAS Ctlg	rs199473147

Max Magnitude

0

ClinVar
Risk	rs199473147(T;T)
Alt	rs199473147(T;T)
Reference	Rs199473147(C;C)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome not specified
Variation	info
Gene	SCN5A
CLNDBN	Congenital long QT syndrome Long QT syndrome not specified
Reversed	1
HGVS	NC_000003.11:g.38639380G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058480.3, RCV000171571.1, RCV000182996.3,