rs199472958

Orientation

minus

Stabilized

minus

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

Make rs199472958(A;A)

Make rs199472958(A;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951505

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472958
dbSNP (classic)	rs199472958
ClinGen	rs199472958
ebi	rs199472958
HLI	rs199472958
Exac	rs199472958
Gnomad	rs199472958
Varsome	rs199472958
LitVar	rs199472958
Map	rs199472958
PheGenI	rs199472958
Biobank	rs199472958
1000 genomes	rs199472958
hgdp	rs199472958
ensembl	rs199472958
geneview	rs199472958
scholar	rs199472958
google	rs199472958
pharmgkb	rs199472958
gwascentral	rs199472958
openSNP	rs199472958
23andMe	rs199472958
SNPshot	rs199472958
SNPdbe	rs199472958
MSV3d	rs199472958
GWAS Ctlg	rs199472958

Max Magnitude

0

ClinVar
Risk	rs199472958(A;A) rs199472958(C;C)
Alt	rs199472958(A;A) rs199472958(C;C)
Reference	Rs199472958(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.150648593C>G; NC_000007.13:g.150648593C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058037.3, RCV000208259.1,