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rs863225292

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863225292(A;A)
Make rs863225292(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position161895711
GeneGABRA1
is asnp
is mentioned by
dbSNPrs863225292
dbSNP (classic)rs863225292
ClinGenrs863225292
ebirs863225292
HLIrs863225292
Exacrs863225292
Gnomadrs863225292
Varsomers863225292
LitVarrs863225292
Maprs863225292
PheGenIrs863225292
Biobankrs863225292
1000 genomesrs863225292
hgdprs863225292
ensemblrs863225292
geneviewrs863225292
scholarrs863225292
googlers863225292
pharmgkbrs863225292
gwascentralrs863225292
openSNPrs863225292
23andMers863225292
SNPshotrs863225292
SNPdbers863225292
MSV3drs863225292
GWAS Ctlgrs863225292
Max Magnitude0
ClinVar
Risk rs863225292(A;A)
Alt rs863225292(A;A)
Reference Rs863225292(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRA1
CLNDBN Epileptic encephalopathy, early infantile, 19
Reversed 0
HGVS NC_000005.9:g.161322717G>A
CLNSRC
CLNACC RCV000201943.1,