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rs886039818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886039818(C;T)
Make rs886039818(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome4
Position47406706
GeneGABRB1
is asnp
is mentioned by
dbSNPrs886039818
dbSNP (classic)rs886039818
ClinGenrs886039818
ebirs886039818
HLIrs886039818
Exacrs886039818
Gnomadrs886039818
Varsomers886039818
LitVarrs886039818
Maprs886039818
PheGenIrs886039818
Biobankrs886039818
1000 genomesrs886039818
hgdprs886039818
ensemblrs886039818
geneviewrs886039818
scholarrs886039818
googlers886039818
pharmgkbrs886039818
gwascentralrs886039818
openSNPrs886039818
23andMers886039818
23andMe allrs886039818
SNPshotrs886039818
SNPdbers886039818
MSV3drs886039818
GWAS Ctlgrs886039818
Max Magnitude0
ClinVar
Risk rs886039818(T;T)
Alt rs886039818(T;T)
Reference Rs886039818(C;C)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB1
CLNDBN Epileptic encephalopathy, early infantile, 45
Reversed 0
HGVS NC_000004.11:g.47408723C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000256350.1,