rs199472954

Orientation

minus

Stabilized

minus

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

Make rs199472954(A;A)

Make rs199472954(A;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951514

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472954
dbSNP (classic)	rs199472954
ClinGen	rs199472954
ebi	rs199472954
HLI	rs199472954
Exac	rs199472954
Gnomad	rs199472954
Varsome	rs199472954
LitVar	rs199472954
Map	rs199472954
PheGenI	rs199472954
Biobank	rs199472954
1000 genomes	rs199472954
hgdp	rs199472954
ensembl	rs199472954
geneview	rs199472954
scholar	rs199472954
google	rs199472954
pharmgkb	rs199472954
gwascentral	rs199472954
openSNP	rs199472954
23andMe	rs199472954
SNPshot	rs199472954
SNPdbe	rs199472954
MSV3d	rs199472954
GWAS Ctlg	rs199472954

Max Magnitude

0

ClinVar
Risk	rs199472954(A;A) rs199472954(C;C)
Alt	rs199472954(A;A) rs199472954(C;C)
Reference	Rs199472954(T;T)
Significance	Untested
Disease	Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648602A>G; NC_000007.13:g.150648602A>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058027.3, RCV000058026.3,