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rs1057519269

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519269(A;A)
Make rs1057519269(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position82679729
GeneAP3B2, CPEB1-AS1
is asnp
is mentioned by
dbSNPrs1057519269
dbSNP (old)rs1057519269
ClinGenrs1057519269
ebirs1057519269
HLIrs1057519269
Exacrs1057519269
Gnomadrs1057519269
Varsomers1057519269
Maprs1057519269
PheGenIrs1057519269
Biobankrs1057519269
1000 genomesrs1057519269
hgdprs1057519269
ensemblrs1057519269
gopubmedrs1057519269
geneviewrs1057519269
scholarrs1057519269
googlers1057519269
pharmgkbrs1057519269
gwascentralrs1057519269
openSNPrs1057519269
23andMers1057519269
23andMe allrs1057519269
SNPshotrs1057519269
SNPdbers1057519269
MSV3drs1057519269
GWAS Ctlgrs1057519269
Max Magnitude0
ClinVar
Risk rs1057519269(A;A)
Alt rs1057519269(A;A)
Reference Rs1057519269(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.83348481C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000415544.1,