rs145974930

Orientation

plus

Stabilized

plus

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

Make rs145974930(A;A)

Make rs145974930(A;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2768882

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs145974930
dbSNP (classic)	rs145974930
ClinGen	rs145974930
ebi	rs145974930
HLI	rs145974930
Exac	rs145974930
Gnomad	rs145974930
Varsome	rs145974930
LitVar	rs145974930
Map	rs145974930
PheGenI	rs145974930
Biobank	rs145974930
1000 genomes	rs145974930
hgdp	rs145974930
ensembl	rs145974930
geneview	rs145974930
scholar	rs145974930
google	rs145974930
pharmgkb	rs145974930
gwascentral	rs145974930
openSNP	rs145974930
23andMe	rs145974930
SNPshot	rs145974930
SNPdbe	rs145974930
MSV3d	rs145974930
GWAS Ctlg	rs145974930

Max Magnitude

0

ClinVar
Risk	rs145974930(A;A) rs145974930(C;C)
Alt	rs145974930(A;A) rs145974930(C;C)
Reference	Rs145974930(G;G)
Significance	Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome Long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Congenital long QT syndrome Long QT syndrome Long QT syndrome, LQT1 subtype not provided
Reversed	0
HGVS	NC_000011.9:g.2790112G>A; NC_000011.9:g.2790112G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057593.3, RCV000148557.1, RCV000045998.2, RCV000057594.3, RCV000182198.2,