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rs199472926

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472926(C;C)
Make rs199472926(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951689
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472926
dbSNP (classic)rs199472926
ClinGenrs199472926
ebirs199472926
HLIrs199472926
Exacrs199472926
Gnomadrs199472926
Varsomers199472926
LitVarrs199472926
Maprs199472926
PheGenIrs199472926
Biobankrs199472926
1000 genomesrs199472926
hgdprs199472926
ensemblrs199472926
geneviewrs199472926
scholarrs199472926
googlers199472926
pharmgkbrs199472926
gwascentralrs199472926
openSNPrs199472926
23andMers199472926
SNPshotrs199472926
SNPdbers199472926
MSV3drs199472926
GWAS Ctlgrs199472926
Max Magnitude0
ClinVar
Risk rs199472926(A;A) rs199472926(C;C) rs199472926(T;T)
Alt rs199472926(A;A) rs199472926(C;C) rs199472926(T;T)
Reference Rs199472926(G;G)
Significance 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.150648777C>A; NC_000007.13:g.150648777C>G; NC_000007.13:g.150648777C>T
CLNSRC ClinVar
CLNACC RCV000057955.3, RCV000057954.3, RCV000181809.2,