rs199472948

Orientation

minus

Stabilized

minus

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

Make rs199472948(A;A)

Make rs199472948(A;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951531

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472948
dbSNP (classic)	rs199472948
ClinGen	rs199472948
ebi	rs199472948
HLI	rs199472948
Exac	rs199472948
Gnomad	rs199472948
Varsome	rs199472948
LitVar	rs199472948
Map	rs199472948
PheGenI	rs199472948
Biobank	rs199472948
1000 genomes	rs199472948
hgdp	rs199472948
ensembl	rs199472948
geneview	rs199472948
scholar	rs199472948
google	rs199472948
pharmgkb	rs199472948
gwascentral	rs199472948
openSNP	rs199472948
23andMe	rs199472948
SNPshot	rs199472948
SNPdbe	rs199472948
MSV3d	rs199472948
GWAS Ctlg	rs199472948

Max Magnitude

0

ClinVar
Risk	rs199472948(A;A)
Alt	rs199472948(A;A)
Reference	Rs199472948(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.150648619C>T
CLNSRC	ClinVar
CLNACC	RCV000058017.3,