rs199472972

Orientation

minus

Stabilized

minus

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

Make rs199472972(C;C)

Make rs199472972(C;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951463

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472972
dbSNP (classic)	rs199472972
ClinGen	rs199472972
ebi	rs199472972
HLI	rs199472972
Exac	rs199472972
Gnomad	rs199472972
Varsome	rs199472972
LitVar	rs199472972
Map	rs199472972
PheGenI	rs199472972
Biobank	rs199472972
1000 genomes	rs199472972
hgdp	rs199472972
ensembl	rs199472972
geneview	rs199472972
scholar	rs199472972
google	rs199472972
pharmgkb	rs199472972
gwascentral	rs199472972
openSNP	rs199472972
23andMe	rs199472972
SNPshot	rs199472972
SNPdbe	rs199472972
MSV3d	rs199472972
GWAS Ctlg	rs199472972

Max Magnitude

0

ClinVar
Risk	rs199472972(A;A) rs199472972(C;C) rs199472972(T;T)
Alt	rs199472972(A;A) rs199472972(C;C) rs199472972(T;T)
Reference	Rs199472972(G;G)
Significance	Untested
Disease	Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648551C>A; NC_000007.13:g.150648551C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058059.3, RCV000058058.3,