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

rs120074187

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs120074187(A;A)
Make rs120074187(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2572963
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074187
ebirs120074187
HLIrs120074187
Exacrs120074187
Varsomers120074187
Maprs120074187
PheGenIrs120074187
hapmaprs120074187
1000 genomesrs120074187
hgdprs120074187
ensemblrs120074187
gopubmedrs120074187
geneviewrs120074187
scholarrs120074187
googlers120074187
pharmgkbrs120074187
gwascentralrs120074187
openSNPrs120074187
23andMers120074187
23andMe allrs120074187
SNP Nexus

SNPshotrs120074187
SNPdbers120074187
MSV3drs120074187
GWAS Ctlgrs120074187
Max Magnitude0
OMIM607542
Desc
Variant0017
Relatedalso
ClinVar
Risk rs120074187(A;A)
Alt rs120074187(A;A)
Reference rs120074187(G;G)
Significance Pathogenic
Disease Long QT syndrome 1 not provided not specified
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 not provided not specified
Reversed 0
HGVS NC_000011.9:g.2594193G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003276.2, RCV000057789.2, RCV000182128.3,


[PMID 9641694] A recessive variant of the Romano-Ward long-QT syndrome?


[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.


[PMID 19841300OA-icon.png] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.