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rs199472883

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472883(G;T)
Make rs199472883(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958073
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472883
ebirs199472883
HLIrs199472883
Exacrs199472883
Varsomers199472883
Maprs199472883
PheGenIrs199472883
hapmaprs199472883
1000 genomesrs199472883
hgdprs199472883
ensemblrs199472883
gopubmedrs199472883
geneviewrs199472883
scholarrs199472883
googlers199472883
pharmgkbrs199472883
gwascentralrs199472883
openSNPrs199472883
23andMers199472883
23andMe allrs199472883
SNP Nexus

SNPshotrs199472883
SNPdbers199472883
MSV3drs199472883
GWAS Ctlgrs199472883
Max Magnitude0
ClinVar
Risk rs199472883(T;T)
Alt rs199472883(T;T)
Reference rs199472883(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150655161C>A
CLNSRC ClinVar
CLNACC RCV000058271.2,