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rs121912705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912705(A;A)
Make rs121912705(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position113367764
GeneANK2
is asnp
is mentioned by
dbSNPrs121912705
dbSNP (classic)rs121912705
ClinGenrs121912705
ebirs121912705
HLIrs121912705
Exacrs121912705
Gnomadrs121912705
Varsomers121912705
LitVarrs121912705
Maprs121912705
PheGenIrs121912705
Biobankrs121912705
1000 genomesrs121912705
hgdprs121912705
ensemblrs121912705
geneviewrs121912705
scholarrs121912705
googlers121912705
pharmgkbrs121912705
gwascentralrs121912705
openSNPrs121912705
23andMers121912705
SNPshotrs121912705
SNPdbers121912705
MSV3drs121912705
GWAS Ctlgrs121912705
Max Magnitude0
OMIM106410
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121912705(A;A)
Alt rs121912705(A;A)
Reference Rs121912705(C;C)
Significance Other
Disease Cardiac arrhythmia Arrhythmia Cardiac arrhythmia Long QT syndrome not specified
Variation info
Gene ANK2
CLNDBN Cardiac arrhythmia, ankyrin B-related Arrhythmia Cardiac arrhythmia Long QT syndrome not specified
Reversed 0
HGVS NC_000004.11:g.114288920C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019674.28, RCV000058347.3, RCV000171749.3, RCV000204635.3, RCV000223796.3,


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