rs199472979

Orientation

minus

Stabilized

minus

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

Make rs199472979(C;T)

Make rs199472979(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951087

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472979
dbSNP (classic)	rs199472979
ClinGen	rs199472979
ebi	rs199472979
HLI	rs199472979
Exac	rs199472979
Gnomad	rs199472979
Varsome	rs199472979
LitVar	rs199472979
Map	rs199472979
PheGenI	rs199472979
Biobank	rs199472979
1000 genomes	rs199472979
hgdp	rs199472979
ensembl	rs199472979
geneview	rs199472979
scholar	rs199472979
google	rs199472979
pharmgkb	rs199472979
gwascentral	rs199472979
openSNP	rs199472979
23andMe	rs199472979
SNPshot	rs199472979
SNPdbe	rs199472979
MSV3d	rs199472979
GWAS Ctlg	rs199472979

Max Magnitude

0

ClinVar
Risk	rs199472979(T;T)
Alt	rs199472979(T;T)
Reference	Rs199472979(C;C)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648175G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058072.3, RCV000181833.4, RCV000468503.1,