rs199472916

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Romano-Ward Long QT Syndrome

Make rs199472916(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951793

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472916
dbSNP (classic)	rs199472916
ClinGen	rs199472916
ebi	rs199472916
HLI	rs199472916
Exac	rs199472916
Gnomad	rs199472916
Varsome	rs199472916
LitVar	rs199472916
Map	rs199472916
PheGenI	rs199472916
Biobank	rs199472916
1000 genomes	rs199472916
hgdp	rs199472916
ensembl	rs199472916
geneview	rs199472916
scholar	rs199472916
google	rs199472916
pharmgkb	rs199472916
gwascentral	rs199472916
openSNP	rs199472916
23andMe	rs199472916
SNPshot	rs199472916
SNPdbe	rs199472916
MSV3d	rs199472916
GWAS Ctlg	rs199472916

Max Magnitude

5

ClinVar
Risk	rs199472916(A;A) rs199472916(T;T)
Alt	rs199472916(A;A) rs199472916(T;T)
Reference	Rs199472916(C;C)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648881G>A; NC_000007.13:g.150648881G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057929.3, RCV000181800.2, RCV000470519.1, RCV000182023.1, RCV000473348.1,