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rs199472839

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472839(A;T)
Make rs199472839(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150974885
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199472839
dbSNP (classic)rs199472839
ClinGenrs199472839
ebirs199472839
HLIrs199472839
Exacrs199472839
Gnomadrs199472839
Varsomers199472839
LitVarrs199472839
Maprs199472839
PheGenIrs199472839
Biobankrs199472839
1000 genomesrs199472839
hgdprs199472839
ensemblrs199472839
geneviewrs199472839
scholarrs199472839
googlers199472839
pharmgkbrs199472839
gwascentralrs199472839
openSNPrs199472839
23andMers199472839
SNPshotrs199472839
SNPdbers199472839
MSV3drs199472839
GWAS Ctlgrs199472839
Max Magnitude0
ClinVar
Risk rs199472839(G;G) rs199472839(T;T)
Alt rs199472839(G;G) rs199472839(T;T)
Reference Rs199472839(A;A)
Significance Untested
Disease Congenital long QT syndrome
Variation info
Gene KCNH2
CLNDBN Congenital long QT syndrome
Reversed 1
HGVS NC_000007.13:g.150671973T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000057896.3,