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rs199472848

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472848(C;C)
Make rs199472848(C;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974786
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472848
ebirs199472848
HLIrs199472848
Exacrs199472848
Varsomers199472848
Maprs199472848
PheGenIrs199472848
hapmaprs199472848
1000 genomesrs199472848
hgdprs199472848
ensemblrs199472848
gopubmedrs199472848
geneviewrs199472848
scholarrs199472848
googlers199472848
pharmgkbrs199472848
gwascentralrs199472848
openSNPrs199472848
23andMers199472848
23andMe allrs199472848
SNP Nexus

SNPshotrs199472848
SNPdbers199472848
MSV3drs199472848
GWAS Ctlgrs199472848
Max Magnitude0
ClinVar
Risk rs199472848(C;C)
Alt rs199472848(C;C)
Reference rs199472848(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.150671874C>G
CLNSRC ClinVar
CLNACC RCV000058107.2,