rs199473006

Orientation

minus

Stabilized

minus

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

Make rs199473006(C;G)

Make rs199473006(G;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150948912

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473006
dbSNP (classic)	rs199473006
ClinGen	rs199473006
ebi	rs199473006
HLI	rs199473006
Exac	rs199473006
Gnomad	rs199473006
Varsome	rs199473006
LitVar	rs199473006
Map	rs199473006
PheGenI	rs199473006
Biobank	rs199473006
1000 genomes	rs199473006
hgdp	rs199473006
ensembl	rs199473006
geneview	rs199473006
scholar	rs199473006
google	rs199473006
pharmgkb	rs199473006
gwascentral	rs199473006
openSNP	rs199473006
23andMe	rs199473006
SNPshot	rs199473006
SNPdbe	rs199473006
MSV3d	rs199473006
GWAS Ctlg	rs199473006

Max Magnitude

0

ClinVar
Risk	rs199473006(A;A) rs199473006(G;G) rs199473006(T;T)
Alt	rs199473006(A;A) rs199473006(G;G) rs199473006(T;T)
Reference	Rs199473006(C;C)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome 2
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome 2
Reversed	1
HGVS	NC_000007.13:g.150646000G>A; NC_000007.13:g.150646000G>C; NC_000007.13:g.150646000G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058133.3, RCV000181874.2, RCV000464496.1, RCV000148525.1, RCV000058132.3,