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rs199472992

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472992(C;C)
Make rs199472992(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150950295
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472992
ebirs199472992
HLIrs199472992
Exacrs199472992
Varsomers199472992
Maprs199472992
PheGenIrs199472992
hapmaprs199472992
1000 genomesrs199472992
hgdprs199472992
ensemblrs199472992
gopubmedrs199472992
geneviewrs199472992
scholarrs199472992
googlers199472992
pharmgkbrs199472992
gwascentralrs199472992
openSNPrs199472992
23andMers199472992
23andMe allrs199472992
SNP Nexus

SNPshotrs199472992
SNPdbers199472992
MSV3drs199472992
GWAS Ctlgrs199472992
Max Magnitude0
ClinVar
Risk rs199472992(C;C)
Alt rs199472992(C;C)
Reference rs199472992(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.150647383C>G
CLNSRC ClinVar
CLNACC RCV000058103.2,