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rs199472952

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472952(G;T)
Make rs199472952(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951516
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472952
ebirs199472952
HLIrs199472952
Exacrs199472952
Varsomers199472952
Maprs199472952
PheGenIrs199472952
hapmaprs199472952
1000 genomesrs199472952
hgdprs199472952
ensemblrs199472952
gopubmedrs199472952
geneviewrs199472952
scholarrs199472952
googlers199472952
pharmgkbrs199472952
gwascentralrs199472952
openSNPrs199472952
23andMers199472952
23andMe allrs199472952
SNP Nexus

SNPshotrs199472952
SNPdbers199472952
MSV3drs199472952
GWAS Ctlgrs199472952
Max Magnitude0
ClinVar
Risk rs199472952(A,C,T;A,C,T)
Alt rs199472952(A,C,T;A,C,T)
Reference rs199472952(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.150648604C>A; NC_000007.13:g.150648604C>G; NC_000007.13:g.150648604C>T
CLNSRC ClinVar
CLNACC RCV000058025.2, RCV000058024.2, RCV000058023.2,