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rs199473005

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473005(G;T)
Make rs199473005(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150948939
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473005
dbSNP (old)rs199473005
ClinGenrs199473005
ebirs199473005
HLIrs199473005
Exacrs199473005
Gnomadrs199473005
Varsomers199473005
Maprs199473005
PheGenIrs199473005
Biobankrs199473005
1000 genomesrs199473005
hgdprs199473005
ensemblrs199473005
gopubmedrs199473005
geneviewrs199473005
scholarrs199473005
googlers199473005
pharmgkbrs199473005
gwascentralrs199473005
openSNPrs199473005
23andMers199473005
23andMe allrs199473005
SNP Nexus

SNPshotrs199473005
SNPdbers199473005
MSV3drs199473005
GWAS Ctlgrs199473005
Max Magnitude0
ClinVar
Risk rs199473005(A;A) rs199473005(T;T)
Alt rs199473005(A;A) rs199473005(T;T)
Reference Rs199473005(G;G)
Significance Probable-Pathogenic
Disease Congenital long QT syndrome Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150646027C>A; NC_000007.13:g.150646027C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000058130.3, RCV000058129.3, RCV000240628.1,