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rs199473039

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473039(C;T)
Make rs199473039(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951512
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473039
ebirs199473039
HLIrs199473039
Exacrs199473039
Varsomers199473039
Maprs199473039
PheGenIrs199473039
hapmaprs199473039
1000 genomesrs199473039
hgdprs199473039
ensemblrs199473039
gopubmedrs199473039
geneviewrs199473039
scholarrs199473039
googlers199473039
pharmgkbrs199473039
gwascentralrs199473039
openSNPrs199473039
23andMers199473039
23andMe allrs199473039
SNP Nexus

SNPshotrs199473039
SNPdbers199473039
MSV3drs199473039
GWAS Ctlgrs199473039
Max Magnitude0
ClinVar
Risk rs199473039(A,G,T;A,G,T)
Alt rs199473039(A,G,T;A,G,T)
Reference rs199473039(C;C)
Significance Pathogenic
Disease Congenital long QT syndrome not provided
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome not provided
Reversed 1
HGVS NC_000007.13:g.150648600G>C; NC_000007.13:g.150648600G>T
CLNSRC ClinVar
CLNACC RCV000058028.2, RCV000182034.1,