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rs199472990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472990(C;T)
Make rs199472990(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950312
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472990
ebirs199472990
HLIrs199472990
Exacrs199472990
Varsomers199472990
Maprs199472990
PheGenIrs199472990
hapmaprs199472990
1000 genomesrs199472990
hgdprs199472990
ensemblrs199472990
gopubmedrs199472990
geneviewrs199472990
scholarrs199472990
googlers199472990
pharmgkbrs199472990
gwascentralrs199472990
openSNPrs199472990
23andMers199472990
23andMe allrs199472990
SNP Nexus

SNPshotrs199472990
SNPdbers199472990
MSV3drs199472990
GWAS Ctlgrs199472990
Max Magnitude0
ClinVar
Risk rs199472990(T;T)
Alt rs199472990(T;T)
Reference rs199472990(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150647400G>A
CLNSRC ClinVar
CLNACC RCV000058099.2, RCV000181845.2,