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rs199472846

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472846(C;C)
Make rs199472846(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974849
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472846
ebirs199472846
HLIrs199472846
Exacrs199472846
Varsomers199472846
Maprs199472846
PheGenIrs199472846
hapmaprs199472846
1000 genomesrs199472846
hgdprs199472846
ensemblrs199472846
gopubmedrs199472846
geneviewrs199472846
scholarrs199472846
googlers199472846
pharmgkbrs199472846
gwascentralrs199472846
openSNPrs199472846
23andMers199472846
23andMe allrs199472846
SNP Nexus

SNPshotrs199472846
SNPdbers199472846
MSV3drs199472846
GWAS Ctlgrs199472846
Max Magnitude0
ClinVar
Risk rs199472846(C;C)
Alt rs199472846(C;C)
Reference rs199472846(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.150671937C>G
CLNSRC ClinVar
CLNACC RCV000057951.2,