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rs199473432

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473432(A;A)
Make rs199473432(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150948476
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473432
ebirs199473432
HLIrs199473432
Exacrs199473432
Varsomers199473432
Maprs199473432
PheGenIrs199473432
hapmaprs199473432
1000 genomesrs199473432
hgdprs199473432
ensemblrs199473432
gopubmedrs199473432
geneviewrs199473432
scholarrs199473432
googlers199473432
pharmgkbrs199473432
gwascentralrs199473432
openSNPrs199473432
23andMers199473432
23andMe allrs199473432
SNP Nexus

SNPshotrs199473432
SNPdbers199473432
MSV3drs199473432
GWAS Ctlgrs199473432
Max Magnitude0
ClinVar
Risk rs199473432(A;A)
Alt rs199473432(A;A)
Reference rs199473432(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome Long QT syndrome Long QT syndrome 2
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome Long QT syndrome Long QT syndrome 2
Reversed 1
HGVS NC_000007.13:g.150645564C>T
CLNSRC ClinVar University of Washington
CLNACC RCV000058148.2, RCV000148534.1, RCV000210414.1,