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rs796052492

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs796052492(A;A)
Make rs796052492(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position161890993
GeneGABRA1
is asnp
is mentioned by
dbSNPrs796052492
dbSNP (classic)rs796052492
ClinGenrs796052492
ebirs796052492
HLIrs796052492
Exacrs796052492
Gnomadrs796052492
Varsomers796052492
LitVarrs796052492
Maprs796052492
PheGenIrs796052492
Biobankrs796052492
1000 genomesrs796052492
hgdprs796052492
ensemblrs796052492
geneviewrs796052492
scholarrs796052492
googlers796052492
pharmgkbrs796052492
gwascentralrs796052492
openSNPrs796052492
23andMers796052492
SNPshotrs796052492
SNPdbers796052492
MSV3drs796052492
GWAS Ctlgrs796052492
Max Magnitude0
ClinVar
Risk rs796052492(A;A)
Alt rs796052492(A;A)
Reference Rs796052492(C;C)
Significance Probable-Pathogenic
Disease not provided Epilepsy Epileptic encephalopathy
Variation info
Gene GABRA1
CLNDBN not provided Epilepsy, juvenile myoclonic 5 Epileptic encephalopathy, early infantile, 19
Reversed 0
HGVS NC_000005.9:g.161317999C>A
CLNSRC
CLNACC RCV000187500.1, RCV000477826.1,