rs74315446

Orientation

minus

Stabilized

minus

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

Make rs74315446(C;T)

Make rs74315446(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

34449414

Gene

KCNE1

is a	snp
is	mentioned by
dbSNP	rs74315446
dbSNP (classic)	rs74315446
ClinGen	rs74315446
ebi	rs74315446
HLI	rs74315446
Exac	rs74315446
Gnomad	rs74315446
Varsome	rs74315446
LitVar	rs74315446
Map	rs74315446
PheGenI	rs74315446
Biobank	rs74315446
1000 genomes	rs74315446
hgdp	rs74315446
ensembl	rs74315446
geneview	rs74315446
scholar	rs74315446
google	rs74315446
pharmgkb	rs74315446
gwascentral	rs74315446
openSNP	rs74315446
23andMe	rs74315446
SNPshot	rs74315446
SNPdbe	rs74315446
MSV3d	rs74315446
GWAS Ctlg	rs74315446

GMAF

0.0004591

Max Magnitude

0

OMIM	176261
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315446(G;G) rs74315446(T;T)
Alt	rs74315446(G;G) rs74315446(T;T)
Reference	Rs74315446(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 5 Congenital long QT syndrome Long QT syndrome
Variation	info
Gene	KCNE1B KCNE1
CLNDBN	Long QT syndrome 5 Congenital long QT syndrome Long QT syndrome
Reversed	1
HGVS	NC_000021.8:g.35821712G>A; NC_000021.8:g.35821712G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014421.25, RCV000119079.2, RCV000471661.1, RCV000468164.1,

[PMID 9354802] Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.

[PMID 19907016] Mechanisms of disease pathogenesis in long QT syndrome type 5.