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rs199472920

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472920(A;A)
Make rs199472920(A;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951717
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472920
ebirs199472920
HLIrs199472920
Exacrs199472920
Varsomers199472920
Maprs199472920
PheGenIrs199472920
hapmaprs199472920
1000 genomesrs199472920
hgdprs199472920
ensemblrs199472920
gopubmedrs199472920
geneviewrs199472920
scholarrs199472920
googlers199472920
pharmgkbrs199472920
gwascentralrs199472920
openSNPrs199472920
23andMers199472920
23andMe allrs199472920
SNP Nexus

SNPshotrs199472920
SNPdbers199472920
MSV3drs199472920
GWAS Ctlgrs199472920
Max Magnitude0
ClinVar
Risk rs199472920(A;A)
Alt rs199472920(A;A)
Reference rs199472920(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.150648805A>T
CLNSRC ClinVar
CLNACC RCV000057937.2,