rs199473039

Orientation

minus

Stabilized

minus

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

Make rs199473039(C;T)

Make rs199473039(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951512

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473039
dbSNP (classic)	rs199473039
ClinGen	rs199473039
ebi	rs199473039
HLI	rs199473039
Exac	rs199473039
Gnomad	rs199473039
Varsome	rs199473039
LitVar	rs199473039
Map	rs199473039
PheGenI	rs199473039
Biobank	rs199473039
1000 genomes	rs199473039
hgdp	rs199473039
ensembl	rs199473039
geneview	rs199473039
scholar	rs199473039
google	rs199473039
pharmgkb	rs199473039
gwascentral	rs199473039
openSNP	rs199473039
23andMe	rs199473039
SNPshot	rs199473039
SNPdbe	rs199473039
MSV3d	rs199473039
GWAS Ctlg	rs199473039

Max Magnitude

0

ClinVar
Risk	rs199473039(A;A) rs199473039(G;G) rs199473039(T;T)
Alt	rs199473039(A;A) rs199473039(G;G) rs199473039(T;T)
Reference	Rs199473039(C;C)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome Congenital long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150648600G>A; NC_000007.13:g.150648600G>C; NC_000007.13:g.150648600G>T
CLNSRC	ClinVar
CLNACC	RCV000470569.1, RCV000058028.3, RCV000182034.1,