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rs797045045

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045045(C;C)
Make rs797045045(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position26567721
GeneGABRB3
is asnp
is mentioned by
dbSNPrs797045045
dbSNP (classic)rs797045045
ClinGenrs797045045
ebirs797045045
HLIrs797045045
Exacrs797045045
Gnomadrs797045045
Varsomers797045045
LitVarrs797045045
Maprs797045045
PheGenIrs797045045
Biobankrs797045045
1000 genomesrs797045045
hgdprs797045045
ensemblrs797045045
geneviewrs797045045
scholarrs797045045
googlers797045045
pharmgkbrs797045045
gwascentralrs797045045
openSNPrs797045045
23andMers797045045
SNPshotrs797045045
SNPdbers797045045
MSV3drs797045045
GWAS Ctlgrs797045045
Max Magnitude0
ClinVar
Risk rs797045045(A;A) rs797045045(C;C)
Alt rs797045045(A;A) rs797045045(C;C)
Reference Rs797045045(G;G)
Significance Probable-Pathogenic
Disease Epilepsy not provided
Variation info
Gene GABRB3
CLNDBN Epilepsy, childhood absence 5 not provided
Reversed 1
HGVS NC_000015.9:g.26812868C>G; NC_000015.9:g.26812868C>T
CLNSRC Baylor College of Medicine
CLNACC RCV000191088.1, RCV000431904.1,