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rs199473547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473547(A;A)
Make rs199473547(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150945441
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473547
ebirs199473547
HLIrs199473547
Exacrs199473547
Varsomers199473547
Maprs199473547
PheGenIrs199473547
hapmaprs199473547
1000 genomesrs199473547
hgdprs199473547
ensemblrs199473547
gopubmedrs199473547
geneviewrs199473547
scholarrs199473547
googlers199473547
pharmgkbrs199473547
gwascentralrs199473547
openSNPrs199473547
23andMers199473547
23andMe allrs199473547
SNP Nexus

SNPshotrs199473547
SNPdbers199473547
MSV3drs199473547
GWAS Ctlgrs199473547
Max Magnitude0
ClinVar
Risk rs199473547(A;A)
Alt rs199473547(A;A)
Reference rs199473547(G;G)
Significance Pathogenic
Disease short QT syndrome
Variation info
Gene KCNH2
CLNDBN short QT syndrome
Reversed 1
HGVS NC_000007.13:g.150642529C>T
CLNSRC ClinVar
CLNACC RCV000058222.2,