rs120074177

plus

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

Make rs120074177(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2570682

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074177
dbSNP (classic)	rs120074177
ClinGen	rs120074177
ebi	rs120074177
HLI	rs120074177
Exac	rs120074177
Gnomad	rs120074177
Varsome	rs120074177
LitVar	rs120074177
Map	rs120074177
PheGenI	rs120074177
Biobank	rs120074177
1000 genomes	rs120074177
hgdp	rs120074177
ensembl	rs120074177
geneview	rs120074177
scholar	rs120074177
google	rs120074177
pharmgkb	rs120074177
gwascentral	rs120074177
openSNP	rs120074177
23andMe	rs120074177
SNPshot	rs120074177
SNPdbe	rs120074177
MSV3d	rs120074177
GWAS Ctlg	rs120074177

Max Magnitude

5

OMIM	607542
Desc
Variant	0002
Related	also

ClinVar
Risk	rs120074177(A;A) rs120074177(C;C)
Alt	rs120074177(A;A) rs120074177(C;C)
Reference	Rs120074177(G;G)
Significance	Other
Disease	Congenital long QT syndrome Long QT syndrome not provided Cardiovascular phenotype Long QT syndrome 1 Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Congenital long QT syndrome Long QT syndrome not provided Cardiovascular phenotype Long QT syndrome 1 Long QT syndrome, LQT1 subtype
Reversed	0
HGVS	NC_000011.9:g.2591912G>A; NC_000011.9:g.2591912G>C
CLNSRC	UniProtKB (protein) OMIM Allelic Variant
CLNACC	RCV000057692.3, RCV000148553.3, RCV000182081.2, RCV000244422.1, RCV000003260.2, RCV000046076.2, RCV000057693.3,

[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 9024139] Four novel KVLQT1 and four novel HERG mutations in familial 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.