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rs199472964

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs199472964(A;T)
Make rs199472964(T;T)
ReferenceGRCh38 38.1/142
Chromosome7
Position150951489
GeneKCNH2
is asnp
is mentioned by
dbSNPrs199472964
dbSNP (classic)rs199472964
ClinGenrs199472964
ebirs199472964
HLIrs199472964
Exacrs199472964
Gnomadrs199472964
Varsomers199472964
LitVarrs199472964
Maprs199472964
PheGenIrs199472964
Biobankrs199472964
1000 genomesrs199472964
hgdprs199472964
ensemblrs199472964
geneviewrs199472964
scholarrs199472964
googlers199472964
pharmgkbrs199472964
gwascentralrs199472964
openSNPrs199472964
23andMers199472964
SNPshotrs199472964
SNPdbers199472964
MSV3drs199472964
GWAS Ctlgrs199472964
Max Magnitude0
ClinVar
Risk rs199472964(G;G) rs199472964(T;T)
Alt rs199472964(G;G) rs199472964(T;T)
Reference Rs199472964(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.150648577T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000058046.3,