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rs199473501

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473501(A;A)
Make rs199473501(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150958263
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473501
ebirs199473501
HLIrs199473501
Exacrs199473501
Varsomers199473501
Maprs199473501
PheGenIrs199473501
hapmaprs199473501
1000 genomesrs199473501
hgdprs199473501
ensemblrs199473501
gopubmedrs199473501
geneviewrs199473501
scholarrs199473501
googlers199473501
pharmgkbrs199473501
gwascentralrs199473501
openSNPrs199473501
23andMers199473501
23andMe allrs199473501
SNP Nexus

SNPshotrs199473501
SNPdbers199473501
MSV3drs199473501
GWAS Ctlgrs199473501
Max Magnitude0
ClinVar
Risk rs199473501(A;A)
Alt rs199473501(A;A)
Reference rs199473501(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150655351C>T
CLNSRC ClinVar
CLNACC RCV000058248.2,