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rs72544141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72544141(A;G)
Make rs72544141(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position113348277
GeneANK2
is asnp
is mentioned by
dbSNPrs72544141
ebirs72544141
HLIrs72544141
Exacrs72544141
Varsomers72544141
Maprs72544141
PheGenIrs72544141
hapmaprs72544141
1000 genomesrs72544141
hgdprs72544141
ensemblrs72544141
gopubmedrs72544141
geneviewrs72544141
scholarrs72544141
googlers72544141
pharmgkbrs72544141
gwascentralrs72544141
openSNPrs72544141
23andMers72544141
23andMe allrs72544141
SNP Nexus

SNPshotrs72544141
SNPdbers72544141
MSV3drs72544141
GWAS Ctlgrs72544141
GMAF0.001377
Max Magnitude0
OMIM106410
Desc
Variant0001
Relatedalso


ClinVar
Risk rs72544141(G;G)
Alt rs72544141(G;G)
Reference rs72544141(A;A)
Significance Other
Disease Long QT syndrome 4 Cardiac arrhythmia Congenital long QT syndrome not provided Long QT syndrome
Variation info
Gene ANK2
CLNDBN Long QT syndrome 4 Cardiac arrhythmia, ankyrin B-related Congenital long QT syndrome not provided Long QT syndrome
Reversed 0
HGVS NC_000004.11:g.114269433A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000019672.27, RCV000019673.27, RCV000058356.2, RCV000170702.3, RCV000171737.2,



[PMID 12571597] Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.

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

[PMID 18832177OA-icon.png] Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease.