rs121912706

Orientation

plus

Stabilized

plus

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

Make rs121912706(C;T)

Make rs121912706(T;T)

Reference

GRCh38 38.1/141

Chromosome

4

Position

113373306

Gene

ANK2

is a	snp
is	mentioned by
dbSNP	rs121912706
dbSNP (classic)	rs121912706
ClinGen	rs121912706
ebi	rs121912706
HLI	rs121912706
Exac	rs121912706
Gnomad	rs121912706
Varsome	rs121912706
LitVar	rs121912706
Map	rs121912706
PheGenI	rs121912706
Biobank	rs121912706
1000 genomes	rs121912706
hgdp	rs121912706
ensembl	rs121912706
geneview	rs121912706
scholar	rs121912706
google	rs121912706
pharmgkb	rs121912706
gwascentral	rs121912706
openSNP	rs121912706
23andMe	rs121912706
SNPshot	rs121912706
SNPdbe	rs121912706
MSV3d	rs121912706
GWAS Ctlg	rs121912706

GMAF

0.0009183

Max Magnitude

0

OMIM	106410
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121912706(T;T)
Alt	rs121912706(T;T)
Reference	Rs121912706(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 4 Arrhythmia Cardiac arrhythmia not specified Death in infancy Long QT syndrome
Variation	info
Gene	ANK2
CLNDBN	Long QT syndrome 4 Arrhythmia Cardiac arrhythmia not specified Death in infancy Long QT syndrome
Reversed	0
HGVS	NC_000004.11:g.114294462C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019676.27, RCV000058351.3, RCV000171750.3, RCV000211890.2, RCV000234999.1, RCV000474063.1,

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