rs199472854

Orientation

minus

Stabilized

minus

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

Make rs199472854(A;C)

Make rs199472854(C;C)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150974722

Gene	KCNH2, LOC107986861

is a	snp
is	mentioned by
dbSNP	rs199472854
dbSNP (classic)	rs199472854
ClinGen	rs199472854
ebi	rs199472854
HLI	rs199472854
Exac	rs199472854
Gnomad	rs199472854
Varsome	rs199472854
LitVar	rs199472854
Map	rs199472854
PheGenI	rs199472854
Biobank	rs199472854
1000 genomes	rs199472854
hgdp	rs199472854
ensembl	rs199472854
geneview	rs199472854
scholar	rs199472854
google	rs199472854
pharmgkb	rs199472854
gwascentral	rs199472854
openSNP	rs199472854
23andMe	rs199472854
SNPshot	rs199472854
SNPdbe	rs199472854
MSV3d	rs199472854
GWAS Ctlg	rs199472854

Max Magnitude

0

ClinVar
Risk	rs199472854(C;C) rs199472854(G;G)
Alt	rs199472854(C;C) rs199472854(G;G)
Reference	Rs199472854(A;A)
Significance	Pathogenic
Disease	not provided Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	not provided Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150671810T>C; NC_000007.13:g.150671810T>G
CLNSRC	ClinVar
CLNACC	RCV000181947.1, RCV000058184.3,