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rs199473492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473492(C;C)
Make rs199473492(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974844
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199473492
dbSNP (classic)rs199473492
ClinGenrs199473492
ebirs199473492
HLIrs199473492
Exacrs199473492
Gnomadrs199473492
Varsomers199473492
LitVarrs199473492
Maprs199473492
PheGenIrs199473492
Biobankrs199473492
1000 genomesrs199473492
hgdprs199473492
ensemblrs199473492
geneviewrs199473492
scholarrs199473492
googlers199473492
pharmgkbrs199473492
gwascentralrs199473492
openSNPrs199473492
23andMers199473492
SNPshotrs199473492
SNPdbers199473492
MSV3drs199473492
GWAS Ctlgrs199473492
Max Magnitude0
ClinVar
Risk rs199473492(C;C)
Alt rs199473492(C;C)
Reference Rs199473492(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.150671932C>G
CLNSRC UniProtKB (protein)
CLNACC RCV000057973.3,