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rs199472913

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472913(G;T)
Make rs199472913(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951818
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472913
ebirs199472913
HLIrs199472913
Exacrs199472913
Varsomers199472913
Maprs199472913
PheGenIrs199472913
hapmaprs199472913
1000 genomesrs199472913
hgdprs199472913
ensemblrs199472913
gopubmedrs199472913
geneviewrs199472913
scholarrs199472913
googlers199472913
pharmgkbrs199472913
gwascentralrs199472913
openSNPrs199472913
23andMers199472913
23andMe allrs199472913
SNP Nexus

SNPshotrs199472913
SNPdbers199472913
MSV3drs199472913
GWAS Ctlgrs199472913
Max Magnitude0
ClinVar
Risk rs199472913(T;T)
Alt rs199472913(T;T)
Reference rs199472913(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.150648906C>A
CLNSRC ClinVar
CLNACC RCV000057922.2,