rs16991652

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics

Make rs16991652(C;G)

Make rs16991652(G;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

34370503

Gene	KCNE2, LOC105372791

is a	snp
is	mentioned by
dbSNP	rs16991652
dbSNP (classic)	rs16991652
ClinGen	rs16991652
ebi	rs16991652
HLI	rs16991652
Exac	rs16991652
Gnomad	rs16991652
Varsome	rs16991652
LitVar	rs16991652
Map	rs16991652
PheGenI	rs16991652
Biobank	rs16991652
1000 genomes	rs16991652
hgdp	rs16991652
ensembl	rs16991652
geneview	rs16991652
scholar	rs16991652
google	rs16991652
pharmgkb	rs16991652
gwascentral	rs16991652
openSNP	rs16991652
23andMe	rs16991652
SNPshot	rs16991652
SNPdbe	rs16991652
MSV3d	rs16991652
GWAS Ctlg	rs16991652

GMAF

0.003673

Max Magnitude

0

OMIM	603796
Desc
Variant	0001
Related	also

ClinVar
Risk	rs16991652(G;G)
Alt	rs16991652(G;G)
Reference	Rs16991652(C;C)
Significance	Other
Disease	Long QT syndrome 6 not provided not specified Long QT syndrome 6 Cardiovascular phenotype
Variation	info
Gene	KCNE2
CLNDBN	Long QT syndrome 6, acquired, susceptibility to not provided not specified Long QT syndrome 6 Cardiovascular phenotype
Reversed	0
HGVS	NC_000021.8:g.35742802C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006424.3, RCV000058370.5, RCV000170567.2, RCV000230885.2, RCV000245955.1,

[PMID 10219239] MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.

[PMID 14661677] Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

[PMID 17210839] Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

[PMID 20981092 ] A map of human genome variation from population-scale sequencing.