rs199473645

Orientation

minus

Stabilized

minus

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

Make rs199473645(C;T)

Make rs199473645(T;T)

Reference

GRCh38 38.1/142

Chromosome

21

Position

34449436

Gene

KCNE1

is a	snp
is	mentioned by
dbSNP	rs199473645
dbSNP (classic)	rs199473645
ClinGen	rs199473645
ebi	rs199473645
HLI	rs199473645
Exac	rs199473645
Gnomad	rs199473645
Varsome	rs199473645
LitVar	rs199473645
Map	rs199473645
PheGenI	rs199473645
Biobank	rs199473645
1000 genomes	rs199473645
hgdp	rs199473645
ensembl	rs199473645
geneview	rs199473645
scholar	rs199473645
google	rs199473645
pharmgkb	rs199473645
gwascentral	rs199473645
openSNP	rs199473645
23andMe	rs199473645
SNPshot	rs199473645
SNPdbe	rs199473645
MSV3d	rs199473645
GWAS Ctlg	rs199473645

Max Magnitude

0

ClinVar
Risk	rs199473645(A;A) rs199473645(T;T)
Alt	rs199473645(A;A) rs199473645(T;T)
Reference	Rs199473645(C;C)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome not specified Cardiovascular phenotype not provided
Variation	info
Gene	KCNE1B KCNE1
CLNDBN	Congenital long QT syndrome not specified Cardiovascular phenotype not provided
Reversed	1
HGVS	NC_000021.8:g.35821734G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000119072.2, RCV000156530.1, RCV000253612.1, RCV000479909.1,