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rs199472880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472880(A;A)
Make rs199472880(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958110
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472880
ebirs199472880
HLIrs199472880
Exacrs199472880
Varsomers199472880
Maprs199472880
PheGenIrs199472880
hapmaprs199472880
1000 genomesrs199472880
hgdprs199472880
ensemblrs199472880
gopubmedrs199472880
geneviewrs199472880
scholarrs199472880
googlers199472880
pharmgkbrs199472880
gwascentralrs199472880
openSNPrs199472880
23andMers199472880
23andMe allrs199472880
SNP Nexus

SNPshotrs199472880
SNPdbers199472880
MSV3drs199472880
GWAS Ctlgrs199472880
Max Magnitude0
ClinVar
Risk rs199472880(A;A)
Alt rs199472880(A;A)
Reference rs199472880(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150655198C>T
CLNSRC ClinVar
CLNACC RCV000058264.2, RCV000202899.1,