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rs1057524879

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057524879(-;-)
Make rs1057524879(-;T)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position32666564
GeneSYNJ1
is asnp
is mentioned by
dbSNPrs1057524879
dbSNP (old)rs1057524879
ClinGenrs1057524879
ebirs1057524879
HLIrs1057524879
Exacrs1057524879
Gnomadrs1057524879
Varsomers1057524879
Maprs1057524879
PheGenIrs1057524879
Biobankrs1057524879
1000 genomesrs1057524879
hgdprs1057524879
ensemblrs1057524879
gopubmedrs1057524879
geneviewrs1057524879
scholarrs1057524879
googlers1057524879
pharmgkbrs1057524879
gwascentralrs1057524879
openSNPrs1057524879
23andMers1057524879
23andMe allrs1057524879
SNPshotrs1057524879
SNPdbers1057524879
MSV3drs1057524879
GWAS Ctlgrs1057524879
Max Magnitude0
ClinVar
Risk rs1057524879(-;-)
Alt rs1057524879(-;-)
Reference Rs1057524879(T;T)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SYNJ1
CLNDBN Epileptic encephalopathy, early infantile, 53
Reversed 1
HGVS NC_000021.8:g.34038874delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000445368.1,