rs45454496

Orientation

plus

Stabilized

plus

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

Make rs45454496(A;A)

Reference

GRCh38 38.1/141

Chromosome

4

Position

113373381

Gene

ANK2

is a	snp
is	mentioned by
dbSNP	rs45454496
dbSNP (classic)	rs45454496
ClinGen	rs45454496
ebi	rs45454496
HLI	rs45454496
Exac	rs45454496
Gnomad	rs45454496
Varsome	rs45454496
LitVar	rs45454496
Map	rs45454496
PheGenI	rs45454496
Biobank	rs45454496
1000 genomes	rs45454496
hgdp	rs45454496
ensembl	rs45454496
geneview	rs45454496
scholar	rs45454496
google	rs45454496
pharmgkb	rs45454496
gwascentral	rs45454496
openSNP	rs45454496
23andMe	rs45454496
SNPshot	rs45454496
SNPdbe	rs45454496
MSV3d	rs45454496
GWAS Ctlg	rs45454496

GMAF

0.001377

Max Magnitude

1

OMIM	106410
Desc
Variant	0005
Related	also

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 not provided
Variation	info
Gene	ANK2
CLNDBN	Cardiac arrhythmia, ankyrin B-related Arrhythmia not specified Cardiac arrhythmia Long QT syndrome not provided
Reversed	0
HGVS	NC_000004.11:g.114294537G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019677.25, RCV000058352.3, RCV000123649.5, RCV000171798.3, RCV000196066.3, RCV000420423.1,

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