rs199472970

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;C)	5	Romano-Ward Long QT Syndrome
(C;C)	0	common in clinvar

Make rs199472970(A;A)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951473

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472970
dbSNP (classic)	rs199472970
ClinGen	rs199472970
ebi	rs199472970
HLI	rs199472970
Exac	rs199472970
Gnomad	rs199472970
Varsome	rs199472970
LitVar	rs199472970
Map	rs199472970
PheGenI	rs199472970
Biobank	rs199472970
1000 genomes	rs199472970
hgdp	rs199472970
ensembl	rs199472970
geneview	rs199472970
scholar	rs199472970
google	rs199472970
pharmgkb	rs199472970
gwascentral	rs199472970
openSNP	rs199472970
23andMe	rs199472970
SNPshot	rs199472970
SNPdbe	rs199472970
MSV3d	rs199472970
GWAS Ctlg	rs199472970

Max Magnitude

5

ClinVar
Risk	rs199472970(A;A) rs199472970(G;G)
Alt	rs199472970(A;A) rs199472970(G;G)
Reference	Rs199472970(C;C)
Significance	Pathogenic
Disease	not provided Congenital long QT syndrome Long QT syndrome 2
Variation	info
Gene	KCNH2
CLNDBN	not provided Congenital long QT syndrome Long QT syndrome 2
Reversed	1
HGVS	NC_000007.13:g.150648561G>C; NC_000007.13:g.150648561G>T
CLNSRC	Sir Ganga Ram Hospital
CLNACC	RCV000487077.1, RCV000058055.3, RCV000234804.1,