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rs121912513

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912513(A;T)
Make rs121912513(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position150948866
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912513
ebirs121912513
HLIrs121912513
Exacrs121912513
Varsomers121912513
Maprs121912513
PheGenIrs121912513
hapmaprs121912513
1000 genomesrs121912513
hgdprs121912513
ensemblrs121912513
gopubmedrs121912513
geneviewrs121912513
scholarrs121912513
googlers121912513
pharmgkbrs121912513
gwascentralrs121912513
openSNPrs121912513
23andMers121912513
23andMe allrs121912513
SNP Nexus

SNPshotrs121912513
SNPdbers121912513
MSV3drs121912513
GWAS Ctlgrs121912513
Max Magnitude0
OMIM152427
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121912513(C,G,T;C,G,T)
Alt rs121912513(C,G,T;C,G,T)
Reference rs121912513(A;A)
Significance Pathogenic
Disease Long QT syndrome 2 Long QT syndrome 2/5 Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Long QT syndrome 2/5 Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150645954T>A; NC_000007.13:g.150645954T>C; NC_000007.13:g.150645954T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015522.25, RCV000015523.25, RCV000058141.2, RCV000181876.1, RCV000058140.2,


[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[PMID 11854117] Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.