rs199473513

Orientation

minus

Stabilized

minus

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

Make rs199473513(G;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150952480

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473513
dbSNP (classic)	rs199473513
ClinGen	rs199473513
ebi	rs199473513
HLI	rs199473513
Exac	rs199473513
Gnomad	rs199473513
Varsome	rs199473513
LitVar	rs199473513
Map	rs199473513
PheGenI	rs199473513
Biobank	rs199473513
1000 genomes	rs199473513
hgdp	rs199473513
ensembl	rs199473513
geneview	rs199473513
scholar	rs199473513
google	rs199473513
pharmgkb	rs199473513
gwascentral	rs199473513
openSNP	rs199473513
23andMe	rs199473513
SNPshot	rs199473513
SNPdbe	rs199473513
MSV3d	rs199473513
GWAS Ctlg	rs199473513

Max Magnitude

5

ClinVar
Risk	rs199473513(G;G)
Alt	rs199473513(G;G)
Reference	Rs199473513(A;A)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150649568T>C
CLNSRC	ClinVar
CLNACC	RCV000057919.3, RCV000181795.1,