rs120074180

plus

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

Make rs120074180(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572882

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074180
dbSNP (classic)	rs120074180
ClinGen	rs120074180
ebi	rs120074180
HLI	rs120074180
Exac	rs120074180
Gnomad	rs120074180
Varsome	rs120074180
LitVar	rs120074180
Map	rs120074180
PheGenI	rs120074180
Biobank	rs120074180
1000 genomes	rs120074180
hgdp	rs120074180
ensembl	rs120074180
geneview	rs120074180
scholar	rs120074180
google	rs120074180
pharmgkb	rs120074180
gwascentral	rs120074180
openSNP	rs120074180
23andMe	rs120074180
SNPshot	rs120074180
SNPdbe	rs120074180
MSV3d	rs120074180
GWAS Ctlg	rs120074180

Max Magnitude

5

OMIM	607542
Desc
Variant	0006
Related	also

ClinVar
Risk	rs120074180(T;T)
Alt	rs120074180(T;T)
Reference	Rs120074180(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.2594112C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003266.3, RCV000046135.2, RCV000057769.3, RCV000182120.4,

[PMID 1584047] Simultaneous analysis for testing of models and parameter estimation.

[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 11216980] A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

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