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rs199473497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473497(A;A)
Make rs199473497(A;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150959726
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473497
ebirs199473497
HLIrs199473497
Exacrs199473497
Varsomers199473497
Maprs199473497
PheGenIrs199473497
hapmaprs199473497
1000 genomesrs199473497
hgdprs199473497
ensemblrs199473497
gopubmedrs199473497
geneviewrs199473497
scholarrs199473497
googlers199473497
pharmgkbrs199473497
gwascentralrs199473497
openSNPrs199473497
23andMers199473497
23andMe allrs199473497
SNP Nexus

SNPshotrs199473497
SNPdbers199473497
MSV3drs199473497
GWAS Ctlgrs199473497
Max Magnitude0
ClinVar
Risk rs199473497(A;A)
Alt rs199473497(A;A)
Reference rs199473497(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150656814G>T
CLNSRC ClinVar
CLNACC RCV000058207.2,