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rs886037938

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886037938(A;A)
Make rs886037938(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position26621417
GeneGABRB3
is asnp
is mentioned by
dbSNPrs886037938
dbSNP (classic)rs886037938
ClinGenrs886037938
ebirs886037938
HLIrs886037938
Exacrs886037938
Gnomadrs886037938
Varsomers886037938
LitVarrs886037938
Maprs886037938
PheGenIrs886037938
Biobankrs886037938
1000 genomesrs886037938
hgdprs886037938
ensemblrs886037938
geneviewrs886037938
scholarrs886037938
googlers886037938
pharmgkbrs886037938
gwascentralrs886037938
openSNPrs886037938
23andMers886037938
SNPshotrs886037938
SNPdbers886037938
MSV3drs886037938
GWAS Ctlgrs886037938
Max Magnitude0
ClinVar
Risk rs886037938(A;A)
Alt rs886037938(A;A)
Reference Rs886037938(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB3
CLNDBN Epileptic encephalopathy, early infantile, 43
Reversed 1
HGVS NC_000015.9:g.26866564C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000240945.1,