rs199472884

Orientation

minus

Stabilized

minus

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

Make rs199472884(C;C)

Make rs199472884(C;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150958059

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472884
dbSNP (classic)	rs199472884
ClinGen	rs199472884
ebi	rs199472884
HLI	rs199472884
Exac	rs199472884
Gnomad	rs199472884
Varsome	rs199472884
LitVar	rs199472884
Map	rs199472884
PheGenI	rs199472884
Biobank	rs199472884
1000 genomes	rs199472884
hgdp	rs199472884
ensembl	rs199472884
geneview	rs199472884
scholar	rs199472884
google	rs199472884
pharmgkb	rs199472884
gwascentral	rs199472884
openSNP	rs199472884
23andMe	rs199472884
SNPshot	rs199472884
SNPdbe	rs199472884
MSV3d	rs199472884
GWAS Ctlg	rs199472884

Max Magnitude

0

ClinVar
Risk	rs199472884(C;C) rs199472884(T;T)
Alt	rs199472884(C;C) rs199472884(T;T)
Reference	Rs199472884(G;G)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome 2
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome 2
Reversed	1
HGVS	NC_000007.13:g.150655147C>A; NC_000007.13:g.150655147C>G
CLNSRC	ClinVar
CLNACC	RCV000058273.3, RCV000182020.2, RCV000229643.2, RCV000058272.3, RCV000157261.1, RCV000198797.2,