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rs587777308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777308(A;A)
Make rs587777308(A;G)
ReferenceGRCh38 38.1/142
Chromosome5
Position161873196
GeneGABRA1
is asnp
is mentioned by
dbSNPrs587777308
dbSNP (classic)rs587777308
ClinGenrs587777308
ebirs587777308
HLIrs587777308
Exacrs587777308
Gnomadrs587777308
Varsomers587777308
LitVarrs587777308
Maprs587777308
PheGenIrs587777308
Biobankrs587777308
1000 genomesrs587777308
hgdprs587777308
ensemblrs587777308
geneviewrs587777308
scholarrs587777308
googlers587777308
pharmgkbrs587777308
gwascentralrs587777308
openSNPrs587777308
23andMers587777308
SNPshotrs587777308
SNPdbers587777308
MSV3drs587777308
GWAS Ctlgrs587777308
Max Magnitude0
ClinVar
Risk rs587777308(A;A)
Alt rs587777308(A;A)
Reference Rs587777308(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy not provided not specified
Variation info
Gene GABRA1
CLNDBN Epileptic encephalopathy, early infantile, 19 not provided not specified
Reversed 0
HGVS NC_000005.9:g.161300202G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000114937.2, RCV000153292.5, RCV000259112.1,