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rs199473428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473428(A;A)
Make rs199473428(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951643
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473428
ebirs199473428
HLIrs199473428
Exacrs199473428
Varsomers199473428
Maprs199473428
PheGenIrs199473428
hapmaprs199473428
1000 genomesrs199473428
hgdprs199473428
ensemblrs199473428
gopubmedrs199473428
geneviewrs199473428
scholarrs199473428
googlers199473428
pharmgkbrs199473428
gwascentralrs199473428
openSNPrs199473428
23andMers199473428
23andMe allrs199473428
SNP Nexus

SNPshotrs199473428
SNPdbers199473428
MSV3drs199473428
GWAS Ctlgrs199473428
Max Magnitude0
ClinVar
Risk rs199473428(A,C,T;A,C,T)
Alt rs199473428(A,C,T;A,C,T)
Reference rs199473428(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome not provided Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150648731C>A; NC_000007.13:g.150648731C>G; NC_000007.13:g.150648731C>T
CLNSRC ClinVar
CLNACC RCV000057976.2, RCV000181817.1, RCV000057975.2, RCV000057974.2, RCV000157264.1, RCV000181816.2,