rs199473083

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Brugada Syndrome
(G;G)	0	common in clinvar

Make rs199473083(A;A)

Reference

GRCh38 38.1/142

Chromosome

3

Position

38609823

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs199473083
dbSNP (classic)	rs199473083
ClinGen	rs199473083
ebi	rs199473083
HLI	rs199473083
Exac	rs199473083
Gnomad	rs199473083
Varsome	rs199473083
LitVar	rs199473083
Map	rs199473083
PheGenI	rs199473083
Biobank	rs199473083
1000 genomes	rs199473083
hgdp	rs199473083
ensembl	rs199473083
geneview	rs199473083
scholar	rs199473083
google	rs199473083
pharmgkb	rs199473083
gwascentral	rs199473083
openSNP	rs199473083
23andMe	rs199473083
SNPshot	rs199473083
SNPdbe	rs199473083
MSV3d	rs199473083
GWAS Ctlg	rs199473083

Max Magnitude

6

ClinVar
Risk	rs199473083(A;A)
Alt	rs199473083(A;A)
Reference	Rs199473083(G;G)
Significance	Pathogenic
Disease	Brugada syndrome Brugada syndrome 1
Variation	info
Gene	SCN5A
CLNDBN	Brugada syndrome Brugada syndrome 1
Reversed	1
HGVS	NC_000003.11:g.38651314C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058851.2, RCV000144028.2,