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rs35530544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs35530544(A;A)
Make rs35530544(A;C)
ReferenceGRCh38 38.1/141
Chromosome4
Position113367751
GeneANK2
is asnp
is mentioned by
dbSNPrs35530544
dbSNP (classic)rs35530544
ClinGenrs35530544
ebirs35530544
HLIrs35530544
Exacrs35530544
Gnomadrs35530544
Varsomers35530544
LitVarrs35530544
Maprs35530544
PheGenIrs35530544
Biobankrs35530544
1000 genomesrs35530544
hgdprs35530544
ensemblrs35530544
geneviewrs35530544
scholarrs35530544
googlers35530544
pharmgkbrs35530544
gwascentralrs35530544
openSNPrs35530544
23andMers35530544
SNPshotrs35530544
SNPdbers35530544
MSV3drs35530544
GWAS Ctlgrs35530544
GMAF0.008724
Max Magnitude0
OMIM106410
Desc
Variant0003
Relatedalso
ClinVar
Risk rs35530544(A;A)
Alt rs35530544(A;A)
Reference Rs35530544(C;C)
Significance Other
Disease Cardiac arrhythmia not provided Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype
Variation info
Gene ANK2
CLNDBN Cardiac arrhythmia, ankyrin B-related not provided Cardiac arrhythmia Long QT syndrome Cardiovascular phenotype
Reversed 0
HGVS NC_000004.11:g.114288907C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019675.23, RCV000058346.3, RCV000171797.1, RCV000227575.3, RCV000242138.1,


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