rs147187721

plus

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

Make rs147187721(G;G)

Make rs147187721(G;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

34449463

Gene

KCNE1

is a	snp
is	mentioned by
dbSNP	rs147187721
dbSNP (classic)	rs147187721
ClinGen	rs147187721
ebi	rs147187721
HLI	rs147187721
Exac	rs147187721
Gnomad	rs147187721
Varsome	rs147187721
LitVar	rs147187721
Map	rs147187721
PheGenI	rs147187721
Biobank	rs147187721
1000 genomes	rs147187721
hgdp	rs147187721
ensembl	rs147187721
geneview	rs147187721
scholar	rs147187721
google	rs147187721
pharmgkb	rs147187721
gwascentral	rs147187721
openSNP	rs147187721
23andMe	rs147187721
SNPshot	rs147187721
SNPdbe	rs147187721
MSV3d	rs147187721
GWAS Ctlg	rs147187721

Max Magnitude

0

ClinVar
Risk	rs147187721(G;G)
Alt	rs147187721(G;G)
Reference	Rs147187721(T;T)
Significance	Untested
Disease	Congenital long QT syndrome not specified
Variation	info
Gene	KCNE1B KCNE1
CLNDBN	Congenital long QT syndrome not specified
Reversed	0
HGVS	NC_000021.8:g.35821761T>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119070.2, RCV000454763.1,

[PMID 19716085 ] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.