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rs199472892

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472892(C;C)
Make rs199472892(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952753
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472892
ebirs199472892
HLIrs199472892
Exacrs199472892
Varsomers199472892
Maprs199472892
PheGenIrs199472892
hapmaprs199472892
1000 genomesrs199472892
hgdprs199472892
ensemblrs199472892
gopubmedrs199472892
geneviewrs199472892
scholarrs199472892
googlers199472892
pharmgkbrs199472892
gwascentralrs199472892
openSNPrs199472892
23andMers199472892
23andMe allrs199472892
SNP Nexus

SNPshotrs199472892
SNPdbers199472892
MSV3drs199472892
GWAS Ctlgrs199472892
Max Magnitude0
ClinVar
Risk rs199472892(C;C)
Alt rs199472892(C;C)
Reference rs199472892(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.150649841C>G
CLNSRC ClinVar
CLNACC RCV000057875.2,