rs199473118

Orientation

minus

Stabilized

minus

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

Make rs199473118(C;T)

Make rs199473118(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

38604067

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs199473118
dbSNP (classic)	rs199473118
ClinGen	rs199473118
ebi	rs199473118
HLI	rs199473118
Exac	rs199473118
Gnomad	rs199473118
Varsome	rs199473118
LitVar	rs199473118
Map	rs199473118
PheGenI	rs199473118
Biobank	rs199473118
1000 genomes	rs199473118
hgdp	rs199473118
ensembl	rs199473118
geneview	rs199473118
scholar	rs199473118
google	rs199473118
pharmgkb	rs199473118
gwascentral	rs199473118
openSNP	rs199473118
23andMe	rs199473118
SNPshot	rs199473118
SNPdbe	rs199473118
MSV3d	rs199473118
GWAS Ctlg	rs199473118

Max Magnitude

0

ClinVar
Risk	rs199473118(T;T)
Alt	rs199473118(T;T)
Reference	Rs199473118(C;C)
Significance	Pathogenic
Disease	Progressive familial heart block type 1A Cardiac conduction defect Brugada syndrome 1 Brugada syndrome
Variation	info
Gene	SCN5A
CLNDBN	Progressive familial heart block type 1A Cardiac conduction defect, nonspecific Brugada syndrome 1 Brugada syndrome
Reversed	1
HGVS	NC_000003.11:g.38645558G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000010000.3, RCV000058426.3, RCV000144029.2, RCV000234724.1,

[PMID 12569159] A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.