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rs121912706

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912706(C;T)
Make rs121912706(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position113373306
GeneANK2
is asnp
is mentioned by
dbSNPrs121912706
ebirs121912706
HLIrs121912706
Exacrs121912706
Varsomers121912706
Maprs121912706
PheGenIrs121912706
hapmaprs121912706
1000 genomesrs121912706
hgdprs121912706
ensemblrs121912706
gopubmedrs121912706
geneviewrs121912706
scholarrs121912706
googlers121912706
pharmgkbrs121912706
gwascentralrs121912706
openSNPrs121912706
23andMers121912706
23andMe allrs121912706
SNP Nexus

SNPshotrs121912706
SNPdbers121912706
MSV3drs121912706
GWAS Ctlgrs121912706
GMAF0.0009183
Max Magnitude0
OMIM106410
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121912706(T;T)
Alt rs121912706(T;T)
Reference rs121912706(C;C)
Significance Pathogenic
Disease Long QT syndrome 4 Arrhythmia Cardiac arrhythmia not specified Death in infancy
Variation info
Gene ANK2
CLNDBN Long QT syndrome 4 Arrhythmia Cardiac arrhythmia not specified Death in infancy
Reversed 0
HGVS NC_000004.11:g.114294462C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019676.27, RCV000058351.2, RCV000171750.3, RCV000211890.1, RCV000234999.1,


[PMID 15178757OA-icon.png] A cardiac arrhythmia syndrome caused by loss of ankyrin-B function.