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rs886037939

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs886037939(A;T)
Make rs886037939(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position26580456
GeneGABRB3
is asnp
is mentioned by
dbSNPrs886037939
dbSNP (classic)rs886037939
ClinGenrs886037939
ebirs886037939
HLIrs886037939
Exacrs886037939
Gnomadrs886037939
Varsomers886037939
LitVarrs886037939
Maprs886037939
PheGenIrs886037939
Biobankrs886037939
1000 genomesrs886037939
hgdprs886037939
ensemblrs886037939
geneviewrs886037939
scholarrs886037939
googlers886037939
pharmgkbrs886037939
gwascentralrs886037939
openSNPrs886037939
23andMers886037939
SNPshotrs886037939
SNPdbers886037939
MSV3drs886037939
GWAS Ctlgrs886037939
Max Magnitude0
ClinVar
Risk rs886037939(T;T)
Alt rs886037939(T;T)
Reference Rs886037939(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB3
CLNDBN Epileptic encephalopathy, early infantile, 43
Reversed 1
HGVS NC_000015.9:g.26825603T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000240882.1,