rs120074192

Orientation

plus

Stabilized

plus

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

Make rs120074192(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2527959

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074192
dbSNP (classic)	rs120074192
ClinGen	rs120074192
ebi	rs120074192
HLI	rs120074192
Exac	rs120074192
Gnomad	rs120074192
Varsome	rs120074192
LitVar	rs120074192
Map	rs120074192
PheGenI	rs120074192
Biobank	rs120074192
1000 genomes	rs120074192
hgdp	rs120074192
ensembl	rs120074192
geneview	rs120074192
scholar	rs120074192
google	rs120074192
pharmgkb	rs120074192
gwascentral	rs120074192
openSNP	rs120074192
23andMe	rs120074192
SNPshot	rs120074192
SNPdbe	rs120074192
MSV3d	rs120074192
GWAS Ctlg	rs120074192

Max Magnitude

5

aka c.37A>G (p.Ser13Gly or S13G; also S140G in older literature)

OMIM	607542
Desc
Variant	0032
Related	also

ClinVar
Risk	rs120074192(G;G)
Alt	rs120074192(G;G)
Reference	Rs120074192(A;A)
Significance	Pathogenic
Disease	Atrial fibrillation Atrial fibrillation
Variation	info
Gene	KCNQ1
CLNDBN	Atrial fibrillation, familial, 3 Atrial fibrillation
Reversed	0
HGVS	NC_000011.9:g.2549189A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003293.4, RCV000057673.3,

[PMID 12522251] KCNQ1 gain-of-function mutation in familial atrial fibrillation.

[PMID 15368194] Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

[PMID 17467630] Human KCNQ1 S140G mutation is associated with atrioventricular blocks.

[PMID 18599533] Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.

[PMID 21224508] The S140G KCNQ1 atrial fibrillation mutation affects 'I(KS)' profile during both atrial and ventricular action potentials.