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rs121912516

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912516(C;C)
Make rs121912516(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position150951721
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912516
ebirs121912516
HLIrs121912516
Exacrs121912516
Varsomers121912516
Maprs121912516
PheGenIrs121912516
hapmaprs121912516
1000 genomesrs121912516
hgdprs121912516
ensemblrs121912516
gopubmedrs121912516
geneviewrs121912516
scholarrs121912516
googlers121912516
pharmgkbrs121912516
gwascentralrs121912516
openSNPrs121912516
23andMers121912516
23andMe allrs121912516
SNP Nexus

SNPshotrs121912516
SNPdbers121912516
MSV3drs121912516
GWAS Ctlgrs121912516
Max Magnitude0
OMIM152427
Desc
Variant0025
Relatedalso
ClinVar
Risk rs121912516(C;C)
Alt rs121912516(C;C)
Reference rs121912516(G;G)
Significance Pathogenic
Disease Long QT syndrome 2 Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648809C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015528.25, RCV000057935.2,


[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.


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


[PMID 19841300OA-icon.png] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.