rs199473457

plus

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

Make rs199473457(C;T)

Make rs199473457(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572020

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199473457
dbSNP (classic)	rs199473457
ClinGen	rs199473457
ebi	rs199473457
HLI	rs199473457
Exac	rs199473457
Gnomad	rs199473457
Varsome	rs199473457
LitVar	rs199473457
Map	rs199473457
PheGenI	rs199473457
Biobank	rs199473457
1000 genomes	rs199473457
hgdp	rs199473457
ensembl	rs199473457
geneview	rs199473457
scholar	rs199473457
google	rs199473457
pharmgkb	rs199473457
gwascentral	rs199473457
openSNP	rs199473457
23andMe	rs199473457
SNPshot	rs199473457
SNPdbe	rs199473457
MSV3d	rs199473457
GWAS Ctlg	rs199473457

Max Magnitude

0

ClinVar
Risk	rs199473457(A;A) rs199473457(T;T)
Alt	rs199473457(A;A) rs199473457(T;T)
Reference	Rs199473457(C;C)
Significance	Pathogenic
Disease	not provided KCNQ1-related acquired long QT syndrome Congenital long QT syndrome Long QT syndrome 1
Variation	info
Gene	KCNQ1
CLNDBN	not provided KCNQ1-related acquired long QT syndrome Congenital long QT syndrome Long QT syndrome 1
Reversed	0
HGVS	NC_000011.9:g.2593250C>A; NC_000011.9:g.2593250C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000289174.2, RCV000046106.2, RCV000057733.3, RCV000182100.3, RCV000240642.1,

[PMID 19843] Eschaemia during arterial reconstructive surgery. Biochemical changes as reflected in popliteal vein samples.

[PMID 12205790] [Congenital long QT syndrome in newborns].

[PMID 14998624] Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

[PMID 15176425] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

[PMID 19716085 ] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.