rs199472728

Orientation

plus

Stabilized

plus

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

Make rs199472728(A;G)

Make rs199472728(G;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2572885

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472728
dbSNP (classic)	rs199472728
ClinGen	rs199472728
ebi	rs199472728
HLI	rs199472728
Exac	rs199472728
Gnomad	rs199472728
Varsome	rs199472728
LitVar	rs199472728
Map	rs199472728
PheGenI	rs199472728
Biobank	rs199472728
1000 genomes	rs199472728
hgdp	rs199472728
ensembl	rs199472728
geneview	rs199472728
scholar	rs199472728
google	rs199472728
pharmgkb	rs199472728
gwascentral	rs199472728
openSNP	rs199472728
23andMe	rs199472728
SNPshot	rs199472728
SNPdbe	rs199472728
MSV3d	rs199472728
GWAS Ctlg	rs199472728

Max Magnitude

0

ClinVar
Risk	rs199472728(G;G)
Alt	rs199472728(G;G)
Reference	Rs199472728(A;A)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not provided not specified Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Congenital long QT syndrome SUDDEN INFANT DEATH SYNDROME not provided not specified Long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2594115A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057771.3, RCV000148546.1, RCV000182121.4, RCV000219577.1, RCV000477432.1,