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rs199473006

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473006(C;G)
Make rs199473006(G;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150948912
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473006
ebirs199473006
HLIrs199473006
Exacrs199473006
Varsomers199473006
Maprs199473006
PheGenIrs199473006
hapmaprs199473006
1000 genomesrs199473006
hgdprs199473006
ensemblrs199473006
gopubmedrs199473006
geneviewrs199473006
scholarrs199473006
googlers199473006
pharmgkbrs199473006
gwascentralrs199473006
openSNPrs199473006
23andMers199473006
23andMe allrs199473006
SNP Nexus

SNPshotrs199473006
SNPdbers199473006
MSV3drs199473006
GWAS Ctlgrs199473006
Max Magnitude0
ClinVar
Risk rs199473006(A,G,T;A,G,T)
Alt rs199473006(A,G,T;A,G,T)
Reference rs199473006(C;C)
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.150646000G>A; NC_000007.13:g.150646000G>C; NC_000007.13:g.150646000G>T
CLNSRC ClinVar University of Washington
CLNACC RCV000058133.2, RCV000181874.2, RCV000148525.1, RCV000058132.2,