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rs199472979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199472979(C;T)
Make rs199472979(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951087
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472979
ebirs199472979
HLIrs199472979
Exacrs199472979
Varsomers199472979
Maprs199472979
PheGenIrs199472979
hapmaprs199472979
1000 genomesrs199472979
hgdprs199472979
ensemblrs199472979
gopubmedrs199472979
geneviewrs199472979
scholarrs199472979
googlers199472979
pharmgkbrs199472979
gwascentralrs199472979
openSNPrs199472979
23andMers199472979
23andMe allrs199472979
SNP Nexus

SNPshotrs199472979
SNPdbers199472979
MSV3drs199472979
GWAS Ctlgrs199472979
Max Magnitude0
ClinVar
Risk rs199472979(T;T)
Alt rs199472979(T;T)
Reference rs199472979(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not specified
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not specified
Reversed 1
HGVS NC_000007.13:g.150648175G>A
CLNSRC ClinVar
CLNACC RCV000058072.2, RCV000181833.2,