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rs199473539

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199473539(C;C)
Make rs199473539(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150948875
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473539
ebirs199473539
HLIrs199473539
Exacrs199473539
Varsomers199473539
Maprs199473539
PheGenIrs199473539
hapmaprs199473539
1000 genomesrs199473539
hgdprs199473539
ensemblrs199473539
gopubmedrs199473539
geneviewrs199473539
scholarrs199473539
googlers199473539
pharmgkbrs199473539
gwascentralrs199473539
openSNPrs199473539
23andMers199473539
23andMe allrs199473539
SNP Nexus

SNPshotrs199473539
SNPdbers199473539
MSV3drs199473539
GWAS Ctlgrs199473539
Max Magnitude0
ClinVar
Risk rs199473539(C;C)
Alt rs199473539(C;C)
Reference rs199473539(T;T)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150645963A>G
CLNSRC ClinVar
CLNACC RCV000058136.2,