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rs199472948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199472948(A;A)
Make rs199472948(A;G)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951531
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472948
ebirs199472948
HLIrs199472948
Exacrs199472948
Varsomers199472948
Maprs199472948
PheGenIrs199472948
hapmaprs199472948
1000 genomesrs199472948
hgdprs199472948
ensemblrs199472948
gopubmedrs199472948
geneviewrs199472948
scholarrs199472948
googlers199472948
pharmgkbrs199472948
gwascentralrs199472948
openSNPrs199472948
23andMers199472948
23andMe allrs199472948
SNP Nexus

SNPshotrs199472948
SNPdbers199472948
MSV3drs199472948
GWAS Ctlgrs199472948
Max Magnitude0
ClinVar
Risk rs199472948(A;A)
Alt rs199472948(A;A)
Reference rs199472948(G;G)
Significance Pathogenic
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150648619C>T
CLNSRC ClinVar
CLNACC RCV000058017.2,