rs199473070

Orientation

minus

Stabilized

minus

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

Make rs199473070(C;C)

Make rs199473070(C;T)

Reference

GRCh38 38.1/142

Chromosome

3

Position

38613811

Gene

SCN5A

is a	snp
is	mentioned by
dbSNP	rs199473070
dbSNP (classic)	rs199473070
ClinGen	rs199473070
ebi	rs199473070
HLI	rs199473070
Exac	rs199473070
Gnomad	rs199473070
Varsome	rs199473070
LitVar	rs199473070
Map	rs199473070
PheGenI	rs199473070
Biobank	rs199473070
1000 genomes	rs199473070
hgdp	rs199473070
ensembl	rs199473070
geneview	rs199473070
scholar	rs199473070
google	rs199473070
pharmgkb	rs199473070
gwascentral	rs199473070
openSNP	rs199473070
23andMe	rs199473070
SNPshot	rs199473070
SNPdbe	rs199473070
MSV3d	rs199473070
GWAS Ctlg	rs199473070

Max Magnitude

0

ClinVar
Risk	rs199473070(A;A) rs199473070(C;C)
Alt	rs199473070(A;A) rs199473070(C;C)
Reference	Rs199473070(T;T)
Significance	Pathogenic
Disease	Congenital long QT syndrome Atrial standstill 1 Brugada syndrome
Variation	info
Gene	SCN5A
CLNDBN	Congenital long QT syndrome Atrial standstill 1, digenic Brugada syndrome
Reversed	1
HGVS	NC_000003.11:g.38655302A>G; NC_000003.11:g.38655302A>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000058830.3, RCV000114993.2, RCV000058829.2,