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rs77331749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs77331749(C;T)
Make rs77331749(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150947833
GeneKCNH2
is asnp
is mentioned by
dbSNPrs77331749
ebirs77331749
HLIrs77331749
Exacrs77331749
Varsomers77331749
Maprs77331749
PheGenIrs77331749
hapmaprs77331749
1000 genomesrs77331749
hgdprs77331749
ensemblrs77331749
gopubmedrs77331749
geneviewrs77331749
scholarrs77331749
googlers77331749
pharmgkbrs77331749
gwascentralrs77331749
openSNPrs77331749
23andMers77331749
23andMe allrs77331749
SNP Nexus

SNPshotrs77331749
SNPdbers77331749
MSV3drs77331749
GWAS Ctlgrs77331749
Max Magnitude0
OMIM152427
Desc
Variant0024
Relatedalso
ClinVar
Risk rs77331749(T;T)
Alt rs77331749(T;T)
Reference rs77331749(C;C)
Significance Other
Disease Long QT syndrome 2 Long QT syndrome 2/9 Congenital long QT syndrome not specified Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Long QT syndrome 2/9, digenic Congenital long QT syndrome not specified Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150644921G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015526.26, RCV000015527.25, RCV000058156.2, RCV000181887.2, RCV000204621.1,


[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.


[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.