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rs121912505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121912505(A;G)
Make rs121912505(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position150952574
GeneKCNH2
is asnp
is mentioned by
dbSNPrs121912505
ebirs121912505
HLIrs121912505
Exacrs121912505
Varsomers121912505
Maprs121912505
PheGenIrs121912505
hapmaprs121912505
1000 genomesrs121912505
hgdprs121912505
ensemblrs121912505
gopubmedrs121912505
geneviewrs121912505
scholarrs121912505
googlers121912505
pharmgkbrs121912505
gwascentralrs121912505
openSNPrs121912505
23andMers121912505
23andMe allrs121912505
SNP Nexus

SNPshotrs121912505
SNPdbers121912505
MSV3drs121912505
GWAS Ctlgrs121912505
Max Magnitude0
OMIM152427
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912505(G;G)
Alt rs121912505(G;G)
Reference rs121912505(A;A)
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.150649662T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015502.25, RCV000057902.2,


[PMID 7889573] A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.


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


[PMID 16432067] Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.