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rs199472951

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472951(A;A)
Make rs199472951(A;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951519
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472951
ebirs199472951
HLIrs199472951
Exacrs199472951
Varsomers199472951
Maprs199472951
PheGenIrs199472951
hapmaprs199472951
1000 genomesrs199472951
hgdprs199472951
ensemblrs199472951
gopubmedrs199472951
geneviewrs199472951
scholarrs199472951
googlers199472951
pharmgkbrs199472951
gwascentralrs199472951
openSNPrs199472951
23andMers199472951
23andMe allrs199472951
SNP Nexus

SNPshotrs199472951
SNPdbers199472951
MSV3drs199472951
GWAS Ctlgrs199472951
Max Magnitude0
ClinVar
Risk rs199472951(A,C;A,C)
Alt rs199472951(A,C;A,C)
Reference rs199472951(T;T)
Significance Pathogenic
Disease Long QT syndrome 2 Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Long QT syndrome 2 Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648607A>G; NC_000007.13:g.150648607A>T
CLNSRC ClinVar
CLNACC RCV000208076.1, RCV000058021.2,