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rs199472857

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472857(A;C)
Make rs199472857(C;C)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974713
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472857
ebirs199472857
HLIrs199472857
Exacrs199472857
Varsomers199472857
Maprs199472857
PheGenIrs199472857
hapmaprs199472857
1000 genomesrs199472857
hgdprs199472857
ensemblrs199472857
gopubmedrs199472857
geneviewrs199472857
scholarrs199472857
googlers199472857
pharmgkbrs199472857
gwascentralrs199472857
openSNPrs199472857
23andMers199472857
23andMe allrs199472857
SNP Nexus

SNPshotrs199472857
SNPdbers199472857
MSV3drs199472857
GWAS Ctlgrs199472857
Max Magnitude0
ClinVar
Risk rs199472857(C,T;C,T)
Alt rs199472857(C,T;C,T)
Reference rs199472857(A;A)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671801T>A; NC_000007.13:g.150671801T>G
CLNSRC ClinVar
CLNACC RCV000058193.2, RCV000058192.2,