rs199472992

Orientation

minus

Stabilized

minus

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

Make rs199472992(C;C)

Make rs199472992(C;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150950295

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472992
dbSNP (classic)	rs199472992
ClinGen	rs199472992
ebi	rs199472992
HLI	rs199472992
Exac	rs199472992
Gnomad	rs199472992
Varsome	rs199472992
LitVar	rs199472992
Map	rs199472992
PheGenI	rs199472992
Biobank	rs199472992
1000 genomes	rs199472992
hgdp	rs199472992
ensembl	rs199472992
geneview	rs199472992
scholar	rs199472992
google	rs199472992
pharmgkb	rs199472992
gwascentral	rs199472992
openSNP	rs199472992
23andMe	rs199472992
SNPshot	rs199472992
SNPdbe	rs199472992
MSV3d	rs199472992
GWAS Ctlg	rs199472992

Max Magnitude

0

ClinVar
Risk	rs199472992(C;C)
Alt	rs199472992(C;C)
Reference	Rs199472992(G;G)
Significance	Untested
Disease	Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150647383C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058103.3,