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rs199472995

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472995(G;T)
Make rs199472995(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950246
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472995
ebirs199472995
HLIrs199472995
Exacrs199472995
Varsomers199472995
Maprs199472995
PheGenIrs199472995
hapmaprs199472995
1000 genomesrs199472995
hgdprs199472995
ensemblrs199472995
gopubmedrs199472995
geneviewrs199472995
scholarrs199472995
googlers199472995
pharmgkbrs199472995
gwascentralrs199472995
openSNPrs199472995
23andMers199472995
23andMe allrs199472995
SNP Nexus

SNPshotrs199472995
SNPdbers199472995
MSV3drs199472995
GWAS Ctlgrs199472995
Max Magnitude0
ClinVar
Risk rs199472995(T;T)
Alt rs199472995(T;T)
Reference rs199472995(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150647334C>A
CLNSRC ClinVar
CLNACC RCV000058106.2, RCV000182045.2, RCV000208316.1,