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rs120074192

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs120074192(A;G)
Make rs120074192(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2527959
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074192
ebirs120074192
HLIrs120074192
Exacrs120074192
Varsomers120074192
Maprs120074192
PheGenIrs120074192
hapmaprs120074192
1000 genomesrs120074192
hgdprs120074192
ensemblrs120074192
gopubmedrs120074192
geneviewrs120074192
scholarrs120074192
googlers120074192
pharmgkbrs120074192
gwascentralrs120074192
openSNPrs120074192
23andMers120074192
23andMe allrs120074192
SNP Nexus

SNPshotrs120074192
SNPdbers120074192
MSV3drs120074192
GWAS Ctlgrs120074192
Max Magnitude0
OMIM607542
Desc
Variant0032
Relatedalso
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
CLNACC RCV000003293.3, RCV000057673.2,


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

[PMID 15368194OA-icon.png] 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 18599533OA-icon.png] 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.