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rs1057519270

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519270(C;C)
Make rs1057519270(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position82680174
GeneAP3B2, CPEB1-AS1
is asnp
is mentioned by
dbSNPrs1057519270
dbSNP (old)rs1057519270
ClinGenrs1057519270
ebirs1057519270
HLIrs1057519270
Exacrs1057519270
Gnomadrs1057519270
Varsomers1057519270
LitVarrs1057519270
Maprs1057519270
PheGenIrs1057519270
Biobankrs1057519270
1000 genomesrs1057519270
hgdprs1057519270
ensemblrs1057519270
gopubmedrs1057519270
geneviewrs1057519270
scholarrs1057519270
googlers1057519270
pharmgkbrs1057519270
gwascentralrs1057519270
openSNPrs1057519270
23andMers1057519270
23andMe allrs1057519270
SNPshotrs1057519270
SNPdbers1057519270
MSV3drs1057519270
GWAS Ctlgrs1057519270
Max Magnitude0
ClinVar
Risk rs1057519270(C;C)
Alt rs1057519270(C;C)
Reference Rs1057519270(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.83348926C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000415589.1,