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rs121912512

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912512(A;A)
Make rs121912512(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position150950311
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912512
ebirs121912512
HLIrs121912512
Exacrs121912512
Varsomers121912512
Maprs121912512
PheGenIrs121912512
hapmaprs121912512
1000 genomesrs121912512
hgdprs121912512
ensemblrs121912512
gopubmedrs121912512
geneviewrs121912512
scholarrs121912512
googlers121912512
pharmgkbrs121912512
gwascentralrs121912512
openSNPrs121912512
23andMers121912512
23andMe allrs121912512
SNP Nexus

SNPshotrs121912512
SNPdbers121912512
MSV3drs121912512
GWAS Ctlgrs121912512
Max Magnitude0
OMIM152427
Desc
Variant0016
Relatedalso
ClinVar
Risk rs121912512(A;A)
Alt rs121912512(A;A)
Reference rs121912512(G;G)
Significance Other
Disease Long QT syndrome 2 Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150647399C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015516.25, RCV000058100.2, RCV000148536.2,


[PMID 12621127] Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.