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rs199473440

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199473440(C;T)
Make rs199473440(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150947807
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199473440
ebirs199473440
HLIrs199473440
Exacrs199473440
Varsomers199473440
Maprs199473440
PheGenIrs199473440
hapmaprs199473440
1000 genomesrs199473440
hgdprs199473440
ensemblrs199473440
gopubmedrs199473440
geneviewrs199473440
scholarrs199473440
googlers199473440
pharmgkbrs199473440
gwascentralrs199473440
openSNPrs199473440
23andMers199473440
23andMe allrs199473440
SNP Nexus

SNPshotrs199473440
SNPdbers199473440
MSV3drs199473440
GWAS Ctlgrs199473440
Max Magnitude0
ClinVar
Risk rs199473440(T;T)
Alt rs199473440(T;T)
Reference rs199473440(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.150644895G>A
CLNSRC ClinVar
CLNACC RCV000058161.2,