Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057518770

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518770(A;A)
Make rs1057518770(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position25354536
GeneUBE3A
is asnp
is mentioned by
dbSNPrs1057518770
dbSNP (old)rs1057518770
ClinGenrs1057518770
ebirs1057518770
HLIrs1057518770
Exacrs1057518770
Gnomadrs1057518770
Varsomers1057518770
Maprs1057518770
PheGenIrs1057518770
Biobankrs1057518770
1000 genomesrs1057518770
hgdprs1057518770
ensemblrs1057518770
gopubmedrs1057518770
geneviewrs1057518770
scholarrs1057518770
googlers1057518770
pharmgkbrs1057518770
gwascentralrs1057518770
openSNPrs1057518770
23andMers1057518770
23andMe allrs1057518770
SNPshotrs1057518770
SNPdbers1057518770
MSV3drs1057518770
GWAS Ctlgrs1057518770
Max Magnitude0
ClinVar
Risk rs1057518770(A;A)
Alt rs1057518770(A;A)
Reference Rs1057518770(G;G)
Significance Pathogenic
Disease Abnormality of the corpus callosum EEG abnormality Expressive language delay Global developmental delay Poor speech Seizures
Variation info
Gene UBE3A
CLNDBN Abnormality of the corpus callosum EEG abnormality Expressive language delay Global developmental delay Poor speech Seizures
Reversed 1
HGVS NC_000015.9:g.25599683C>T
CLNSRC
CLNACC RCV000415459.1,