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rs199473494

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473494(C;T)
Make rs199473494(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974764
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199473494
dbSNP (classic)rs199473494
ClinGenrs199473494
ebirs199473494
HLIrs199473494
Exacrs199473494
Gnomadrs199473494
Varsomers199473494
LitVarrs199473494
Maprs199473494
PheGenIrs199473494
Biobankrs199473494
1000 genomesrs199473494
hgdprs199473494
ensemblrs199473494
geneviewrs199473494
scholarrs199473494
googlers199473494
pharmgkbrs199473494
gwascentralrs199473494
openSNPrs199473494
23andMers199473494
SNPshotrs199473494
SNPdbers199473494
MSV3drs199473494
GWAS Ctlgrs199473494
Max Magnitude0
ClinVar
Risk rs199473494(T;T)
Alt rs199473494(T;T)
Reference Rs199473494(C;C)
Significance Untested
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671852G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058135.3,