rs199473005

Orientation

minus

Stabilized

minus

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

Make rs199473005(G;T)

Make rs199473005(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150948939

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473005
dbSNP (classic)	rs199473005
ClinGen	rs199473005
ebi	rs199473005
HLI	rs199473005
Exac	rs199473005
Gnomad	rs199473005
Varsome	rs199473005
LitVar	rs199473005
Map	rs199473005
PheGenI	rs199473005
Biobank	rs199473005
1000 genomes	rs199473005
hgdp	rs199473005
ensembl	rs199473005
geneview	rs199473005
scholar	rs199473005
google	rs199473005
pharmgkb	rs199473005
gwascentral	rs199473005
openSNP	rs199473005
23andMe	rs199473005
SNPshot	rs199473005
SNPdbe	rs199473005
MSV3d	rs199473005
GWAS Ctlg	rs199473005

Max Magnitude

0

ClinVar
Risk	rs199473005(A;A) rs199473005(T;T)
Alt	rs199473005(A;A) rs199473005(T;T)
Reference	Rs199473005(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.150646027C>A; NC_000007.13:g.150646027C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058130.3, RCV000058129.3, RCV000240628.1,