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rs199473012

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473012(C;G)
Make rs199473012(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150947708
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473012
dbSNP (classic)rs199473012
ClinGenrs199473012
ebirs199473012
HLIrs199473012
Exacrs199473012
Gnomadrs199473012
Varsomers199473012
LitVarrs199473012
Maprs199473012
PheGenIrs199473012
Biobankrs199473012
1000 genomesrs199473012
hgdprs199473012
ensemblrs199473012
geneviewrs199473012
scholarrs199473012
googlers199473012
pharmgkbrs199473012
gwascentralrs199473012
openSNPrs199473012
23andMers199473012
SNPshotrs199473012
SNPdbers199473012
MSV3drs199473012
GWAS Ctlgrs199473012
Max Magnitude0
ClinVar
Risk rs199473012(G;G)
Alt rs199473012(G;G)
Reference Rs199473012(C;C)
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.150644796G>C
CLNSRC ClinVar
CLNACC RCV000058172.3, RCV000413036.1,