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rs199472884

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472884(C;C)
Make rs199472884(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958059
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472884
dbSNP (old)rs199472884
ClinGenrs199472884
ebirs199472884
HLIrs199472884
Exacrs199472884
Gnomadrs199472884
Varsomers199472884
Maprs199472884
PheGenIrs199472884
Biobankrs199472884
1000 genomesrs199472884
hgdprs199472884
ensemblrs199472884
gopubmedrs199472884
geneviewrs199472884
scholarrs199472884
googlers199472884
pharmgkbrs199472884
gwascentralrs199472884
openSNPrs199472884
23andMers199472884
23andMe allrs199472884
SNP Nexus

SNPshotrs199472884
SNPdbers199472884
MSV3drs199472884
GWAS Ctlgrs199472884
Max Magnitude0
ClinVar
Risk rs199472884(C;C) rs199472884(T;T)
Alt rs199472884(C;C) rs199472884(T;T)
Reference Rs199472884(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided Long QT syndrome Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150655147C>A; NC_000007.13:g.150655147C>G
CLNSRC ClinVar
CLNACC RCV000058273.3, RCV000182020.2, RCV000229643.2, RCV000058272.3, RCV000157261.1, RCV000198797.2,