rs199473000

Orientation

minus

Stabilized

minus

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

Make rs199473000(A;A)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150949031

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473000
dbSNP (classic)	rs199473000
ClinGen	rs199473000
ebi	rs199473000
HLI	rs199473000
Exac	rs199473000
Gnomad	rs199473000
Varsome	rs199473000
LitVar	rs199473000
Map	rs199473000
PheGenI	rs199473000
Biobank	rs199473000
1000 genomes	rs199473000
hgdp	rs199473000
ensembl	rs199473000
geneview	rs199473000
scholar	rs199473000
google	rs199473000
pharmgkb	rs199473000
gwascentral	rs199473000
openSNP	rs199473000
23andMe	rs199473000
SNPshot	rs199473000
SNPdbe	rs199473000
MSV3d	rs199473000
GWAS Ctlg	rs199473000

Max Magnitude

5

ClinVar
Risk	rs199473000(A;A) rs199473000(C;C)
Alt	rs199473000(A;A) rs199473000(C;C)
Reference	Rs199473000(G;G)
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.150646119C>G; NC_000007.13:g.150646119C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000181864.2, RCV000058120.2, RCV000181863.2,