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rs775024756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs775024756(A;A)
Make rs775024756(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position82689223
GeneAP3B2, CPEB1-AS1
is asnp
is mentioned by
dbSNPrs775024756
dbSNP (classic)rs775024756
ClinGenrs775024756
ebirs775024756
HLIrs775024756
Exacrs775024756
Gnomadrs775024756
Varsomers775024756
LitVarrs775024756
Maprs775024756
PheGenIrs775024756
Biobankrs775024756
1000 genomesrs775024756
hgdprs775024756
ensemblrs775024756
geneviewrs775024756
scholarrs775024756
googlers775024756
pharmgkbrs775024756
gwascentralrs775024756
openSNPrs775024756
23andMers775024756
23andMe allrs775024756
SNPshotrs775024756
SNPdbers775024756
MSV3drs775024756
GWAS Ctlgrs775024756
Max Magnitude0
ClinVar
Risk rs775024756(A;A)
Alt rs775024756(A;A)
Reference Rs775024756(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CPEB1-AS1 AP3B2
CLNDBN Epileptic encephalopathy, early infantile, 48
Reversed 0
HGVS NC_000015.9:g.83357975G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415580.1,