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rs199473519

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473519(C;C)
Make rs199473519(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951693
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473519
ebirs199473519
HLIrs199473519
Exacrs199473519
Varsomers199473519
Maprs199473519
PheGenIrs199473519
hapmaprs199473519
1000 genomesrs199473519
hgdprs199473519
ensemblrs199473519
gopubmedrs199473519
geneviewrs199473519
scholarrs199473519
googlers199473519
pharmgkbrs199473519
gwascentralrs199473519
openSNPrs199473519
23andMers199473519
23andMe allrs199473519
SNP Nexus

SNPshotrs199473519
SNPdbers199473519
MSV3drs199473519
GWAS Ctlgrs199473519
Max Magnitude0
ClinVar
Risk rs199473519(C;C)
Alt rs199473519(C;C)
Reference rs199473519(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648781A>G
CLNSRC ClinVar
CLNACC RCV000057952.2,