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rs199472904

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472904(C;C)
Make rs199472904(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952595
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472904
ebirs199472904
HLIrs199472904
Exacrs199472904
Varsomers199472904
Maprs199472904
PheGenIrs199472904
hapmaprs199472904
1000 genomesrs199472904
hgdprs199472904
ensemblrs199472904
gopubmedrs199472904
geneviewrs199472904
scholarrs199472904
googlers199472904
pharmgkbrs199472904
gwascentralrs199472904
openSNPrs199472904
23andMers199472904
23andMe allrs199472904
SNP Nexus

SNPshotrs199472904
SNPdbers199472904
MSV3drs199472904
GWAS Ctlgrs199472904
Max Magnitude0
ClinVar
Risk rs199472904(C;C)
Alt rs199472904(C;C)
Reference rs199472904(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.150649683A>G
CLNSRC ClinVar
CLNACC RCV000057900.2,