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rs120074191

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074191(C;T)
Make rs120074191(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position2445448
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs120074191
ebirs120074191
HLIrs120074191
Exacrs120074191
Varsomers120074191
Maprs120074191
PheGenIrs120074191
hapmaprs120074191
1000 genomesrs120074191
hgdprs120074191
ensemblrs120074191
gopubmedrs120074191
geneviewrs120074191
scholarrs120074191
googlers120074191
pharmgkbrs120074191
gwascentralrs120074191
openSNPrs120074191
23andMers120074191
23andMe allrs120074191
SNP Nexus

SNPshotrs120074191
SNPdbers120074191
MSV3drs120074191
GWAS Ctlgrs120074191
Max Magnitude0
OMIM607542
Desc
Variant0030
Relatedalso
ClinVar
Risk rs120074191(T;T)
Alt rs120074191(T;T)
Reference rs120074191(C;C)
Significance Pathogenic
Disease Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2466678C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003290.3, RCV000046051.2, RCV000057662.2,


[PMID 11684219] Molecular diagnosis in a child with sudden infant death syndrome.


[PMID 17053194] The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.


[PMID 19114714] LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1.


[PMID 19716085OA-icon.png] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.