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rs121912514

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912514(C;T)
Make rs121912514(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150947729
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912514
ebirs121912514
HLIrs121912514
Exacrs121912514
Varsomers121912514
Maprs121912514
PheGenIrs121912514
hapmaprs121912514
1000 genomesrs121912514
hgdprs121912514
ensemblrs121912514
gopubmedrs121912514
geneviewrs121912514
scholarrs121912514
googlers121912514
pharmgkbrs121912514
gwascentralrs121912514
openSNPrs121912514
23andMers121912514
23andMe allrs121912514
SNP Nexus

SNPshotrs121912514
SNPdbers121912514
MSV3drs121912514
GWAS Ctlgrs121912514
Max Magnitude0
OMIM152427
Desc
Variant0022
Relatedalso
ClinVar
Risk rs121912514(A,T;A,T)
Alt rs121912514(A,T;A,T)
Reference rs121912514(C;C)
Significance Pathogenic
Disease Long QT syndrome 1/2 Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 1/2, digenic Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150644817G>A; NC_000007.13:g.150644817G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015524.25, RCV000058169.2, RCV000058168.2,


[PMID 20541041] Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.


[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.