rs199473456

Orientation

plus

Stabilized

plus

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

Make rs199473456(C;T)

Make rs199473456(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2571394

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199473456
dbSNP (classic)	rs199473456
ClinGen	rs199473456
ebi	rs199473456
HLI	rs199473456
Exac	rs199473456
Gnomad	rs199473456
Varsome	rs199473456
LitVar	rs199473456
Map	rs199473456
PheGenI	rs199473456
Biobank	rs199473456
1000 genomes	rs199473456
hgdp	rs199473456
ensembl	rs199473456
geneview	rs199473456
scholar	rs199473456
google	rs199473456
pharmgkb	rs199473456
gwascentral	rs199473456
openSNP	rs199473456
23andMe	rs199473456
SNPshot	rs199473456
SNPdbe	rs199473456
MSV3d	rs199473456
GWAS Ctlg	rs199473456

Max Magnitude

0

ClinVar
Risk	rs199473456(T;T)
Alt	rs199473456(T;T)
Reference	Rs199473456(C;C)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2592624C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046103.3, RCV000057730.3, RCV000182302.3,