rs199472947

Orientation

minus

Stabilized

minus

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

Make rs199472947(C;G)

Make rs199472947(G;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951540

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472947
dbSNP (classic)	rs199472947
ClinGen	rs199472947
ebi	rs199472947
HLI	rs199472947
Exac	rs199472947
Gnomad	rs199472947
Varsome	rs199472947
LitVar	rs199472947
Map	rs199472947
PheGenI	rs199472947
Biobank	rs199472947
1000 genomes	rs199472947
hgdp	rs199472947
ensembl	rs199472947
geneview	rs199472947
scholar	rs199472947
google	rs199472947
pharmgkb	rs199472947
gwascentral	rs199472947
openSNP	rs199472947
23andMe	rs199472947
SNPshot	rs199472947
SNPdbe	rs199472947
MSV3d	rs199472947
GWAS Ctlg	rs199472947

Max Magnitude

0

ClinVar
Risk	rs199472947(G;G) rs199472947(T;T)
Alt	rs199472947(G;G) rs199472947(T;T)
Reference	Rs199472947(C;C)
Significance	Untested
Disease	Short QT syndrome Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	short QT syndrome Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648628G>A; NC_000007.13:g.150648628G>C
CLNSRC	ClinVar
CLNACC	RCV000058015.3, RCV000058014.3,