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rs199473009

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473009(C;C)
Make rs199473009(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150947800
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473009
dbSNP (classic)rs199473009
ClinGenrs199473009
ebirs199473009
HLIrs199473009
Exacrs199473009
Gnomadrs199473009
Varsomers199473009
LitVarrs199473009
Maprs199473009
PheGenIrs199473009
Biobankrs199473009
1000 genomesrs199473009
hgdprs199473009
ensemblrs199473009
geneviewrs199473009
scholarrs199473009
googlers199473009
pharmgkbrs199473009
gwascentralrs199473009
openSNPrs199473009
23andMers199473009
SNPshotrs199473009
SNPdbers199473009
MSV3drs199473009
GWAS Ctlgrs199473009
Max Magnitude0
ClinVar
Risk rs199473009(A;A) rs199473009(C;C)
Alt rs199473009(A;A) rs199473009(C;C)
Reference Rs199473009(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not specified Long QT syndrome not provided Cardiovascular phenotype
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not specified Long QT syndrome not provided Cardiovascular phenotype
Reversed 1
HGVS NC_000007.13:g.150644888C>G; NC_000007.13:g.150644888C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058164.3, RCV000454684.1, RCV000468983.1, RCV000058163.3, RCV000181891.2, RCV000251484.1,