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rs886037940

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886037940(A;A)
Make rs886037940(A;C)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position26567671
GeneGABRB3
is asnp
is mentioned by
dbSNPrs886037940
dbSNP (classic)rs886037940
ClinGenrs886037940
ebirs886037940
HLIrs886037940
Exacrs886037940
Gnomadrs886037940
Varsomers886037940
LitVarrs886037940
Maprs886037940
PheGenIrs886037940
Biobankrs886037940
1000 genomesrs886037940
hgdprs886037940
ensemblrs886037940
geneviewrs886037940
scholarrs886037940
googlers886037940
pharmgkbrs886037940
gwascentralrs886037940
openSNPrs886037940
23andMers886037940
SNPshotrs886037940
SNPdbers886037940
MSV3drs886037940
GWAS Ctlgrs886037940
Max Magnitude0
ClinVar
Risk rs886037940(A;A)
Alt rs886037940(A;A)
Reference Rs886037940(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB3
CLNDBN Epileptic encephalopathy, early infantile, 43
Reversed 1
HGVS NC_000015.9:g.26812818G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000240922.1,