rs74315449

Orientation

plus

Stabilized

plus

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

Make rs74315449(C;T)

Make rs74315449(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

34370557

Gene	KCNE2, LOC105372791

is a	snp
is	mentioned by
dbSNP	rs74315449
dbSNP (classic)	rs74315449
ClinGen	rs74315449
ebi	rs74315449
HLI	rs74315449
Exac	rs74315449
Gnomad	rs74315449
Varsome	rs74315449
LitVar	rs74315449
Map	rs74315449
PheGenI	rs74315449
Biobank	rs74315449
1000 genomes	rs74315449
hgdp	rs74315449
ensembl	rs74315449
geneview	rs74315449
scholar	rs74315449
google	rs74315449
pharmgkb	rs74315449
gwascentral	rs74315449
openSNP	rs74315449
23andMe	rs74315449
SNPshot	rs74315449
SNPdbe	rs74315449
MSV3d	rs74315449
GWAS Ctlg	rs74315449

Max Magnitude

0

OMIM	603796
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315449(T;T)
Alt	rs74315449(T;T)
Reference	Rs74315449(C;C)
Significance	Pathogenic
Disease	Atrial fibrillation Atrial fibrillation Long QT syndrome Primary familial hypertrophic cardiomyopathy Long QT syndrome 6
Variation	info
Gene	KCNE2
CLNDBN	Atrial fibrillation, familial, 4 Atrial fibrillation Long QT syndrome Primary familial hypertrophic cardiomyopathy Long QT syndrome 6
Reversed	0
HGVS	NC_000021.8:g.35742856C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006427.3, RCV000058377.3, RCV000157256.1, RCV000490451.1,

[PMID 15368194] Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.

[PMID 16487223] Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.