rs199473417

Orientation

minus

Stabilized

minus

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

Make rs199473417(C;C)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150974816

Gene	KCNH2, LOC107986861

is a	snp
is	mentioned by
dbSNP	rs199473417
dbSNP (classic)	rs199473417
ClinGen	rs199473417
ebi	rs199473417
HLI	rs199473417
Exac	rs199473417
Gnomad	rs199473417
Varsome	rs199473417
LitVar	rs199473417
Map	rs199473417
PheGenI	rs199473417
Biobank	rs199473417
1000 genomes	rs199473417
hgdp	rs199473417
ensembl	rs199473417
geneview	rs199473417
scholar	rs199473417
google	rs199473417
pharmgkb	rs199473417
gwascentral	rs199473417
openSNP	rs199473417
23andMe	rs199473417
SNPshot	rs199473417
SNPdbe	rs199473417
MSV3d	rs199473417
GWAS Ctlg	rs199473417

Max Magnitude

5

ClinVar
Risk	rs199473417(C;C)
Alt	rs199473417(C;C)
Reference	Rs199473417(T;T)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150671904A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058075.3, RCV000181933.2,