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rs121912515

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912515(C;G)
Make rs121912515(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position150974720
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912515
ebirs121912515
HLIrs121912515
Exacrs121912515
Varsomers121912515
Maprs121912515
PheGenIrs121912515
hapmaprs121912515
1000 genomesrs121912515
hgdprs121912515
ensemblrs121912515
gopubmedrs121912515
geneviewrs121912515
scholarrs121912515
googlers121912515
pharmgkbrs121912515
gwascentralrs121912515
openSNPrs121912515
23andMers121912515
23andMe allrs121912515
SNP Nexus

SNPshotrs121912515
SNPdbers121912515
MSV3drs121912515
GWAS Ctlgrs121912515
Max Magnitude0
OMIM152427
Desc
Variant0023
Relatedalso
ClinVar
Risk rs121912515(A,G,T;A,G,T)
Alt rs121912515(A,G,T;A,G,T)
Reference rs121912515(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 2/3 not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome 2/3, digenic not provided
Reversed 1
HGVS NC_000007.13:g.150671808G>A; NC_000007.13:g.150671808G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000058187.2, RCV000015525.25, RCV000058186.2, RCV000181948.1,


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

[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.