rs16991654

Orientation

plus

Stabilized

plus

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

Make rs16991654(C;C)

Make rs16991654(C;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

34370656

Gene	KCNE2, LOC105372791

is a	snp
is	mentioned by
dbSNP	rs16991654
dbSNP (classic)	rs16991654
ClinGen	rs16991654
ebi	rs16991654
HLI	rs16991654
Exac	rs16991654
Gnomad	rs16991654
Varsome	rs16991654
LitVar	rs16991654
Map	rs16991654
PheGenI	rs16991654
Biobank	rs16991654
1000 genomes	rs16991654
hgdp	rs16991654
ensembl	rs16991654
geneview	rs16991654
scholar	rs16991654
google	rs16991654
pharmgkb	rs16991654
gwascentral	rs16991654
openSNP	rs16991654
23andMe	rs16991654
SNPshot	rs16991654
SNPdbe	rs16991654
MSV3d	rs16991654
GWAS Ctlg	rs16991654

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	603796
Desc
Variant	0005
Related	also

ClinVar
Risk	rs16991654(A;A) rs16991654(C;C)
Alt	rs16991654(A;A) rs16991654(C;C)
Reference	Rs16991654(T;T)
Significance	Pathogenic
Disease	Long qt syndrome 3/6 Congenital long QT syndrome
Variation	info
Gene	KCNE2
CLNDBN	Long qt syndrome 3/6, digenic Congenital long QT syndrome
Reversed	0
HGVS	NC_000021.8:g.35742955T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006428.2, RCV000058363.3,

[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.