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rs1057519271

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAC;TCAC) 0 common in clinvar
Make rs1057519271(-;-)
Make rs1057519271(-;TCAC)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position82663149
GeneAP3B2, CPEB1-AS1
is asnp
is mentioned by
dbSNPrs1057519271
dbSNP (old)rs1057519271
ClinGenrs1057519271
ebirs1057519271
HLIrs1057519271
Exacrs1057519271
Gnomadrs1057519271
Varsomers1057519271
LitVarrs1057519271
Maprs1057519271
PheGenIrs1057519271
Biobankrs1057519271
1000 genomesrs1057519271
hgdprs1057519271
ensemblrs1057519271
gopubmedrs1057519271
geneviewrs1057519271
scholarrs1057519271
googlers1057519271
pharmgkbrs1057519271
gwascentralrs1057519271
openSNPrs1057519271
23andMers1057519271
23andMe allrs1057519271
SNPshotrs1057519271
SNPdbers1057519271
MSV3drs1057519271
GWAS Ctlgrs1057519271
Max Magnitude0
ClinVar
Risk rs1057519271(-;-)
Alt rs1057519271(-;-)
Reference Rs1057519271(TCAC;TCAC)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene CPEB1-AS1 AP3B2
CLNDBN Epileptic encephalopathy, early infantile, 48
Reversed 1
HGVS NC_000015.9:g.83331901_83331904delGTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000415561.1,