Have questions? Visit https://www.reddit.com/r/SNPedia

rs151344631

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs151344631(A;A)
Make rs151344631(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2571333
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs151344631
ebirs151344631
HLIrs151344631
Exacrs151344631
Varsomers151344631
Maprs151344631
PheGenIrs151344631
hapmaprs151344631
1000 genomesrs151344631
hgdprs151344631
ensemblrs151344631
gopubmedrs151344631
geneviewrs151344631
scholarrs151344631
googlers151344631
pharmgkbrs151344631
gwascentralrs151344631
openSNPrs151344631
23andMers151344631
23andMe allrs151344631
SNP Nexus

SNPshotrs151344631
SNPdbers151344631
MSV3drs151344631
GWAS Ctlgrs151344631
Max Magnitude0
ClinVar
Risk rs151344631(A;A)
Alt rs151344631(A;A)
Reference rs151344631(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome not provided Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome, LQT1 subtype not provided Congenital long QT syndrome Long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2592563G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030815.2, RCV000046099.2, RCV000057723.4, RCV000119056.1, RCV000148547.1,


[PMID 18580685] A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.


[PMID 20421371OA-icon.png] Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.