rs199472946

Orientation

minus

Stabilized

minus

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

Make rs199472946(A;G)

Make rs199472946(G;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951546

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472946
dbSNP (classic)	rs199472946
ClinGen	rs199472946
ebi	rs199472946
HLI	rs199472946
Exac	rs199472946
Gnomad	rs199472946
Varsome	rs199472946
LitVar	rs199472946
Map	rs199472946
PheGenI	rs199472946
Biobank	rs199472946
1000 genomes	rs199472946
hgdp	rs199472946
ensembl	rs199472946
geneview	rs199472946
scholar	rs199472946
google	rs199472946
pharmgkb	rs199472946
gwascentral	rs199472946
openSNP	rs199472946
23andMe	rs199472946
SNPshot	rs199472946
SNPdbe	rs199472946
MSV3d	rs199472946
GWAS Ctlg	rs199472946

Max Magnitude

0

ClinVar
Risk	rs199472946(G;G)
Alt	rs199472946(G;G)
Reference	Rs199472946(A;A)
Significance	Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome Long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150648634T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058013.3, RCV000157265.2, RCV000182032.1,