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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
ebirs35530544
HLIrs35530544
Exacrs35530544
Varsomers35530544
Maprs35530544
PheGenIrs35530544
hapmaprs35530544
1000 genomesrs35530544
hgdprs35530544
ensemblrs35530544
gopubmedrs35530544
geneviewrs35530544
scholarrs35530544
googlers35530544
pharmgkbrs35530544
gwascentralrs35530544
openSNPrs35530544
23andMers35530544
23andMe allrs35530544
SNP Nexus

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 Pathogenic
Disease Cardiac arrhythmia not provided Cardiac arrhythmia Long QT syndrome
Variation info
Gene ANK2
CLNDBN Cardiac arrhythmia, ankyrin B-related not provided Cardiac arrhythmia Long QT syndrome
Reversed 0
HGVS NC_000004.11:g.114288907C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019675.23, RCV000058346.2, RCV000171797.1, RCV000227575.1,


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

GET Evidence
ANK2-L3740I
aa_change Leu3740Ile
aa_change_short L3740I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0124558
summary