rs120074181

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs120074181(A;A)

Make rs120074181(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572981

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074181
dbSNP (classic)	rs120074181
ClinGen	rs120074181
ebi	rs120074181
HLI	rs120074181
Exac	rs120074181
Gnomad	rs120074181
Varsome	rs120074181
LitVar	rs120074181
Map	rs120074181
PheGenI	rs120074181
Biobank	rs120074181
1000 genomes	rs120074181
hgdp	rs120074181
ensembl	rs120074181
geneview	rs120074181
scholar	rs120074181
google	rs120074181
pharmgkb	rs120074181
gwascentral	rs120074181
openSNP	rs120074181
23andMe	rs120074181
SNPshot	rs120074181
SNPdbe	rs120074181
MSV3d	rs120074181
GWAS Ctlg	rs120074181

Max Magnitude

0

OMIM	607542
Desc
Variant	0007
Related	also

ClinVar
Risk	rs120074181(A;A) rs120074181(C;C)
Alt	rs120074181(A;A) rs120074181(C;C)
Reference	Rs120074181(G;G)
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.2594211G>A; NC_000011.9:g.2594211G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003262.2, RCV000046152.2, RCV000057797.3, RCV000182132.2, RCV000057798.3,

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

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

[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.