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rs199472978

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472978(G;T)
Make rs199472978(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951097
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472978
ebirs199472978
HLIrs199472978
Exacrs199472978
Varsomers199472978
Maprs199472978
PheGenIrs199472978
hapmaprs199472978
1000 genomesrs199472978
hgdprs199472978
ensemblrs199472978
gopubmedrs199472978
geneviewrs199472978
scholarrs199472978
googlers199472978
pharmgkbrs199472978
gwascentralrs199472978
openSNPrs199472978
23andMers199472978
23andMe allrs199472978
SNP Nexus

SNPshotrs199472978
SNPdbers199472978
MSV3drs199472978
GWAS Ctlgrs199472978
Max Magnitude0
ClinVar
Risk rs199472978(A,C,T;A,C,T)
Alt rs199472978(A,C,T;A,C,T)
Reference rs199472978(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648185C>A; NC_000007.13:g.150648185C>G; NC_000007.13:g.150648185C>T
CLNSRC ClinVar
CLNACC RCV000058070.2, RCV000058069.2, RCV000058068.2, RCV000205745.2,