rs199473474

Orientation

plus

Stabilized

plus

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

Make rs199473474(C;T)

Make rs199473474(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2587613

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199473474
dbSNP (classic)	rs199473474
ClinGen	rs199473474
ebi	rs199473474
HLI	rs199473474
Exac	rs199473474
Gnomad	rs199473474
Varsome	rs199473474
LitVar	rs199473474
Map	rs199473474
PheGenI	rs199473474
Biobank	rs199473474
1000 genomes	rs199473474
hgdp	rs199473474
ensembl	rs199473474
geneview	rs199473474
scholar	rs199473474
google	rs199473474
pharmgkb	rs199473474
gwascentral	rs199473474
openSNP	rs199473474
23andMe	rs199473474
SNPshot	rs199473474
SNPdbe	rs199473474
MSV3d	rs199473474
GWAS Ctlg	rs199473474

Max Magnitude

0

ClinVar
Risk	rs199473474(T;T)
Alt	rs199473474(T;T)
Reference	Rs199473474(C;C)
Significance	Untested
Disease	Long QT syndrome Congenital long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2608843C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000045971.2, RCV000057567.3,

[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.