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rs1057519272

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519272(-;-)
Make rs1057519272(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position82666762
GeneAP3B2, CPEB1-AS1
is asnp
is mentioned by
dbSNPrs1057519272
dbSNP (old)rs1057519272
ClinGenrs1057519272
ebirs1057519272
HLIrs1057519272
Exacrs1057519272
Gnomadrs1057519272
Varsomers1057519272
Maprs1057519272
PheGenIrs1057519272
Biobankrs1057519272
1000 genomesrs1057519272
hgdprs1057519272
ensemblrs1057519272
gopubmedrs1057519272
geneviewrs1057519272
scholarrs1057519272
googlers1057519272
pharmgkbrs1057519272
gwascentralrs1057519272
openSNPrs1057519272
23andMers1057519272
23andMe allrs1057519272
SNPshotrs1057519272
SNPdbers1057519272
MSV3drs1057519272
GWAS Ctlgrs1057519272
Max Magnitude0
ClinVar
Risk rs1057519272(-;-)
Alt rs1057519272(-;-)
Reference Rs1057519272(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CPEB1-AS1 AP3B2
CLNDBN Epileptic encephalopathy, early infantile, 48
Reversed 1
HGVS NC_000015.9:g.83335514delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000415523.2,