rs120074193

plus

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

Make rs120074193(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572870

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074193
dbSNP (classic)	rs120074193
ClinGen	rs120074193
ebi	rs120074193
HLI	rs120074193
Exac	rs120074193
Gnomad	rs120074193
Varsome	rs120074193
LitVar	rs120074193
Map	rs120074193
PheGenI	rs120074193
Biobank	rs120074193
1000 genomes	rs120074193
hgdp	rs120074193
ensembl	rs120074193
geneview	rs120074193
scholar	rs120074193
google	rs120074193
pharmgkb	rs120074193
gwascentral	rs120074193
openSNP	rs120074193
23andMe	rs120074193
SNPshot	rs120074193
SNPdbe	rs120074193
MSV3d	rs120074193
GWAS Ctlg	rs120074193

Max Magnitude

5

OMIM	607542
Desc
Variant	0033
Related	also

ClinVar
Risk	rs120074193(A;A) rs120074193(C;C)
Alt	rs120074193(A;A) rs120074193(C;C)
Reference	Rs120074193(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 Congenital long QT syndrome not provided Long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2594100G>A; NC_000011.9:g.2594100G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003294.3, RCV000057765.3, RCV000182118.4, RCV000477568.1, RCV000182306.1,

[PMID 15466] Analysis of employment turnover and job satisfaction of physician's assistants graduated from the Physician's Assistant Program of the University of Alabama in Birmingham, 1972-1975.

[PMID 10560595] Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

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

[PMID 12205113 ] Mutation in KCNQ1 that has both recessive and dominant characteristics.

[PMID 12702160 ] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

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