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rs886037941

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886037941(A;A)
Make rs886037941(A;G)
ReferenceGRCh38.p7 38.3/149
Chromosome15
Position26561099
GeneGABRB3
is asnp
is mentioned by
dbSNPrs886037941
dbSNP (classic)rs886037941
ClinGenrs886037941
ebirs886037941
HLIrs886037941
Exacrs886037941
Gnomadrs886037941
Varsomers886037941
LitVarrs886037941
Maprs886037941
PheGenIrs886037941
Biobankrs886037941
1000 genomesrs886037941
hgdprs886037941
ensemblrs886037941
geneviewrs886037941
scholarrs886037941
googlers886037941
pharmgkbrs886037941
gwascentralrs886037941
openSNPrs886037941
23andMers886037941
SNPshotrs886037941
SNPdbers886037941
MSV3drs886037941
GWAS Ctlgrs886037941
Max Magnitude0
ClinVar
Risk rs886037941(A;A)
Alt rs886037941(A;A)
Reference Rs886037941(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB3
CLNDBN Epileptic encephalopathy, early infantile, 43
Reversed 1
HGVS NC_000015.9:g.26806246C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000240948.1,