rs120074183

Orientation

plus

Stabilized

plus

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

Make rs120074183(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2585213

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074183
dbSNP (classic)	rs120074183
ClinGen	rs120074183
ebi	rs120074183
HLI	rs120074183
Exac	rs120074183
Gnomad	rs120074183
Varsome	rs120074183
LitVar	rs120074183
Map	rs120074183
PheGenI	rs120074183
Biobank	rs120074183
1000 genomes	rs120074183
hgdp	rs120074183
ensembl	rs120074183
geneview	rs120074183
scholar	rs120074183
google	rs120074183
pharmgkb	rs120074183
gwascentral	rs120074183
openSNP	rs120074183
23andMe	rs120074183
SNPshot	rs120074183
SNPdbe	rs120074183
MSV3d	rs120074183
GWAS Ctlg	rs120074183

Max Magnitude

5

OMIM	607542
Desc
Variant	0011
Related	also

ClinVar
Risk	rs120074183(A;A)
Alt	rs120074183(A;A)
Reference	Rs120074183(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2606443G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003270.2, RCV000045944.2, RCV000057536.3,

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

[PMID 10376919] Functional effects of mutations in KvLQT1 that cause long QT syndrome.

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.