rs199472751

plus

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

Make rs199472751(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2583462

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472751
dbSNP (classic)	rs199472751
ClinGen	rs199472751
ebi	rs199472751
HLI	rs199472751
Exac	rs199472751
Gnomad	rs199472751
Varsome	rs199472751
LitVar	rs199472751
Map	rs199472751
PheGenI	rs199472751
Biobank	rs199472751
1000 genomes	rs199472751
hgdp	rs199472751
ensembl	rs199472751
geneview	rs199472751
scholar	rs199472751
google	rs199472751
pharmgkb	rs199472751
gwascentral	rs199472751
openSNP	rs199472751
23andMe	rs199472751
SNPshot	rs199472751
SNPdbe	rs199472751
MSV3d	rs199472751
GWAS Ctlg	rs199472751

Max Magnitude

5

ClinVar
Risk	rs199472751(A;A) rs199472751(T;T)
Alt	rs199472751(A;A) rs199472751(T;T)
Reference	Rs199472751(G;G)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2604692G>A; NC_000011.9:g.2604692G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046177.2, RCV000057822.3, RCV000182310.1, RCV000057823.3,

[PMID 9302275] Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

[PMID 9482580] Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.

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

[PMID 20541041] Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.