rs72544141

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar

Make rs72544141(A;G)

Make rs72544141(G;G)

Reference

GRCh38 38.1/141

Chromosome

4

Position

113348277

Gene

ANK2

is a	snp
is	mentioned by
dbSNP	rs72544141
dbSNP (classic)	rs72544141
ClinGen	rs72544141
ebi	rs72544141
HLI	rs72544141
Exac	rs72544141
Gnomad	rs72544141
Varsome	rs72544141
LitVar	rs72544141
Map	rs72544141
PheGenI	rs72544141
Biobank	rs72544141
1000 genomes	rs72544141
hgdp	rs72544141
ensembl	rs72544141
geneview	rs72544141
scholar	rs72544141
google	rs72544141
pharmgkb	rs72544141
gwascentral	rs72544141
openSNP	rs72544141
23andMe	rs72544141
SNPshot	rs72544141
SNPdbe	rs72544141
MSV3d	rs72544141
GWAS Ctlg	rs72544141

GMAF

0.001377

Max Magnitude

0

OMIM	106410
Desc
Variant	0001
Related	also

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 specified Long QT syndrome Cardiovascular phenotype
Variation	info
Gene	ANK2
CLNDBN	Long QT syndrome 4 Cardiac arrhythmia, ankyrin B-related Congenital long QT syndrome not specified Long QT syndrome Cardiovascular phenotype
Reversed	0
HGVS	NC_000004.11:g.114269433A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019672.27, RCV000019673.27, RCV000058356.3, RCV000170702.5, RCV000171737.3, RCV000244762.1,

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

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

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