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rs886039373

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039373(A;A)
Make rs886039373(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position161882639
GeneGABRA1
is asnp
is mentioned by
dbSNPrs886039373
dbSNP (classic)rs886039373
ClinGenrs886039373
ebirs886039373
HLIrs886039373
Exacrs886039373
Gnomadrs886039373
Varsomers886039373
LitVarrs886039373
Maprs886039373
PheGenIrs886039373
Biobankrs886039373
1000 genomesrs886039373
hgdprs886039373
ensemblrs886039373
geneviewrs886039373
scholarrs886039373
googlers886039373
pharmgkbrs886039373
gwascentralrs886039373
openSNPrs886039373
23andMers886039373
23andMe allrs886039373
SNPshotrs886039373
SNPdbers886039373
MSV3drs886039373
GWAS Ctlgrs886039373
Max Magnitude0
ClinVar
Risk rs886039373(A;A)
Alt rs886039373(A;A)
Reference Rs886039373(G;G)
Significance Pathogenic
Disease not provided Epileptic encephalopathy
Variation info
Gene GABRA1
CLNDBN not provided Epileptic encephalopathy, early infantile, 19
Reversed 0
HGVS NC_000005.9:g.161309645G>A
CLNSRC
CLNACC RCV000254956.1, RCV000417089.2,