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rs199472980

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472980(C;C)
Make rs199472980(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951081
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472980
ebirs199472980
HLIrs199472980
Exacrs199472980
Varsomers199472980
Maprs199472980
PheGenIrs199472980
hapmaprs199472980
1000 genomesrs199472980
hgdprs199472980
ensemblrs199472980
gopubmedrs199472980
geneviewrs199472980
scholarrs199472980
googlers199472980
pharmgkbrs199472980
gwascentralrs199472980
openSNPrs199472980
23andMers199472980
23andMe allrs199472980
SNP Nexus

SNPshotrs199472980
SNPdbers199472980
MSV3drs199472980
GWAS Ctlgrs199472980
Max Magnitude0
ClinVar
Risk rs199472980(C;C)
Alt rs199472980(C;C)
Reference rs199472980(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648169A>G
CLNSRC ClinVar
CLNACC RCV000058073.2,