rs199472953

Orientation

minus

Stabilized

minus

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

Make rs199472953(A;A)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951517

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472953
dbSNP (classic)	rs199472953
ClinGen	rs199472953
ebi	rs199472953
HLI	rs199472953
Exac	rs199472953
Gnomad	rs199472953
Varsome	rs199472953
LitVar	rs199472953
Map	rs199472953
PheGenI	rs199472953
Biobank	rs199472953
1000 genomes	rs199472953
hgdp	rs199472953
ensembl	rs199472953
geneview	rs199472953
scholar	rs199472953
google	rs199472953
pharmgkb	rs199472953
gwascentral	rs199472953
openSNP	rs199472953
23andMe	rs199472953
SNPshot	rs199472953
SNPdbe	rs199472953
MSV3d	rs199472953
GWAS Ctlg	rs199472953

Max Magnitude

5

ClinVar
Risk	rs199472953(A;A)
Alt	rs199472953(A;A)
Reference	Rs199472953(G;G)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome 2
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome Long QT syndrome 2
Reversed	1
HGVS	NC_000007.13:g.150648605C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058022.3, RCV000240640.1,