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rs45454496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 1 Probably benign
(G;G) 0 common in clinvar


Make rs45454496(A;A)
ReferenceGRCh38 38.1/141
Chromosome4
Position113373381
GeneANK2
is asnp
is mentioned by
dbSNPrs45454496
ebirs45454496
HLIrs45454496
Exacrs45454496
Varsomers45454496
Maprs45454496
PheGenIrs45454496
hapmaprs45454496
1000 genomesrs45454496
hgdprs45454496
ensemblrs45454496
gopubmedrs45454496
geneviewrs45454496
scholarrs45454496
googlers45454496
pharmgkbrs45454496
gwascentralrs45454496
openSNPrs45454496
23andMers45454496
23andMe allrs45454496
SNP Nexus

SNPshotrs45454496
SNPdbers45454496
MSV3drs45454496
GWAS Ctlgrs45454496
GMAF0.001377
Max Magnitude1
OMIM106410
Desc
Variant0005
Relatedalso
ClinVar
Risk rs45454496(A;A)
Alt rs45454496(A;A)
Reference Rs45454496(G;G)
Significance Probable-non-pathogenic
Disease Cardiac arrhythmia Arrhythmia not specified Cardiac arrhythmia Long QT syndrome
Variation info
Gene ANK2
CLNDBN Cardiac arrhythmia, ankyrin B-related Arrhythmia not specified Cardiac arrhythmia Long QT syndrome
Reversed 0
HGVS NC_000004.11:g.114294537G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000019677.25, RCV000058352.3, RCV000123649.4, RCV000171798.2, RCV000196066.2,


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