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rs199472893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199472893(C;C)
Make rs199472893(C;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150952744
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472893
ebirs199472893
HLIrs199472893
Exacrs199472893
Varsomers199472893
Maprs199472893
PheGenIrs199472893
hapmaprs199472893
1000 genomesrs199472893
hgdprs199472893
ensemblrs199472893
gopubmedrs199472893
geneviewrs199472893
scholarrs199472893
googlers199472893
pharmgkbrs199472893
gwascentralrs199472893
openSNPrs199472893
23andMers199472893
23andMe allrs199472893
SNP Nexus

SNPshotrs199472893
SNPdbers199472893
MSV3drs199472893
GWAS Ctlgrs199472893
Max Magnitude0
ClinVar
Risk rs199472893(C;C)
Alt rs199472893(C;C)
Reference rs199472893(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.150649832A>G
CLNSRC ClinVar
CLNACC RCV000057877.2,