Have questions? Visit https://www.reddit.com/r/SNPedia

rs886039817

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs886039817(C;C)
Make rs886039817(C;T)
ReferenceGRCh38.p7 38.3/149
Chromosome4
Position47403613
GeneGABRB1
is asnp
is mentioned by
dbSNPrs886039817
dbSNP (classic)rs886039817
ClinGenrs886039817
ebirs886039817
HLIrs886039817
Exacrs886039817
Gnomadrs886039817
Varsomers886039817
LitVarrs886039817
Maprs886039817
PheGenIrs886039817
Biobankrs886039817
1000 genomesrs886039817
hgdprs886039817
ensemblrs886039817
geneviewrs886039817
scholarrs886039817
googlers886039817
pharmgkbrs886039817
gwascentralrs886039817
openSNPrs886039817
23andMers886039817
23andMe allrs886039817
SNPshotrs886039817
SNPdbers886039817
MSV3drs886039817
GWAS Ctlgrs886039817
Max Magnitude0
ClinVar
Risk rs886039817(C;C)
Alt rs886039817(C;C)
Reference Rs886039817(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene GABRB1
CLNDBN Epileptic encephalopathy, early infantile, 45
Reversed 0
HGVS NC_000004.11:g.47405630T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000256298.1,