rs120074182

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Romano-Ward Long QT Syndrome

Make rs120074182(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2583448

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074182
dbSNP (classic)	rs120074182
ClinGen	rs120074182
ebi	rs120074182
HLI	rs120074182
Exac	rs120074182
Gnomad	rs120074182
Varsome	rs120074182
LitVar	rs120074182
Map	rs120074182
PheGenI	rs120074182
Biobank	rs120074182
1000 genomes	rs120074182
hgdp	rs120074182
ensembl	rs120074182
geneview	rs120074182
scholar	rs120074182
google	rs120074182
pharmgkb	rs120074182
gwascentral	rs120074182
openSNP	rs120074182
23andMe	rs120074182
SNPshot	rs120074182
SNPdbe	rs120074182
MSV3d	rs120074182
GWAS Ctlg	rs120074182

Max Magnitude

5

OMIM	607542
Desc
Variant	0008
Related	also

ClinVar
Risk	rs120074182(T;T)
Alt	rs120074182(T;T)
Reference	Rs120074182(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2604678C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003263.2, RCV000046165.2, RCV000057808.3, RCV000182136.4,

[PMID 1546664] Intraaortic debris as a potential source of embolic stroke.

[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

[PMID 9323054] Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

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

[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

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