rs199473253

Orientation

minus

Stabilized

minus

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

Make rs199473253(A;A)

Reference

GRCh38 38.1/142

Chromosome

3

Position

38556505

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs199473253
dbSNP (classic)	rs199473253
ClinGen	rs199473253
ebi	rs199473253
HLI	rs199473253
Exac	rs199473253
Gnomad	rs199473253
Varsome	rs199473253
LitVar	rs199473253
Map	rs199473253
PheGenI	rs199473253
Biobank	rs199473253
1000 genomes	rs199473253
hgdp	rs199473253
ensembl	rs199473253
geneview	rs199473253
scholar	rs199473253
google	rs199473253
pharmgkb	rs199473253
gwascentral	rs199473253
openSNP	rs199473253
23andMe	rs199473253
SNPshot	rs199473253
SNPdbe	rs199473253
MSV3d	rs199473253
GWAS Ctlg	rs199473253

Max Magnitude

5

ClinVar
Risk	rs199473253(A;A)
Alt	rs199473253(A;A)
Reference	Rs199473253(C;C)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided
Variation	info
Gene	SCN5A
CLNDBN	Congenital long QT syndrome not provided
Reversed	1
HGVS	NC_000003.11:g.38597996G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058667.3, RCV000183071.1,