rs199472717

Orientation

plus

Stabilized

plus

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

Make rs199472717(A;A)

Make rs199472717(A;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2572101

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472717
dbSNP (classic)	rs199472717
ClinGen	rs199472717
ebi	rs199472717
HLI	rs199472717
Exac	rs199472717
Gnomad	rs199472717
Varsome	rs199472717
LitVar	rs199472717
Map	rs199472717
PheGenI	rs199472717
Biobank	rs199472717
1000 genomes	rs199472717
hgdp	rs199472717
ensembl	rs199472717
geneview	rs199472717
scholar	rs199472717
google	rs199472717
pharmgkb	rs199472717
gwascentral	rs199472717
openSNP	rs199472717
23andMe	rs199472717
SNPshot	rs199472717
SNPdbe	rs199472717
MSV3d	rs199472717
GWAS Ctlg	rs199472717

Max Magnitude

0

ClinVar
Risk	rs199472717(A;A) rs199472717(T;T)
Alt	rs199472717(A;A) rs199472717(T;T)
Reference	Rs199472717(C;C)
Significance	Untested
Disease	Long QT syndrome Congenital long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2593331C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046121.2, RCV000057752.3,