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rs199472840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472840(A;A)
Make rs199472840(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974872
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472840
ebirs199472840
HLIrs199472840
Exacrs199472840
Varsomers199472840
Maprs199472840
PheGenIrs199472840
hapmaprs199472840
1000 genomesrs199472840
hgdprs199472840
ensemblrs199472840
gopubmedrs199472840
geneviewrs199472840
scholarrs199472840
googlers199472840
pharmgkbrs199472840
gwascentralrs199472840
openSNPrs199472840
23andMers199472840
23andMe allrs199472840
SNP Nexus

SNPshotrs199472840
SNPdbers199472840
MSV3drs199472840
GWAS Ctlgrs199472840
Max Magnitude0
ClinVar
Risk rs199472840(A;A)
Alt rs199472840(A;A)
Reference rs199472840(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671960C>T
CLNSRC ClinVar
CLNACC RCV000057912.2,