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rs199472878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472878(A;A)
Make rs199472878(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958145
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472878
ebirs199472878
HLIrs199472878
Exacrs199472878
Varsomers199472878
Maprs199472878
PheGenIrs199472878
hapmaprs199472878
1000 genomesrs199472878
hgdprs199472878
ensemblrs199472878
gopubmedrs199472878
geneviewrs199472878
scholarrs199472878
googlers199472878
pharmgkbrs199472878
gwascentralrs199472878
openSNPrs199472878
23andMers199472878
23andMe allrs199472878
SNP Nexus

SNPshotrs199472878
SNPdbers199472878
MSV3drs199472878
GWAS Ctlgrs199472878
Max Magnitude0
ClinVar
Risk rs199472878(A;A)
Alt rs199472878(A;A)
Reference rs199472878(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150655233G>T
CLNSRC ClinVar
CLNACC RCV000058262.2,