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rs1057524880

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057524880(A;G)
Make rs1057524880(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position32645791
GeneSYNJ1
is asnp
is mentioned by
dbSNPrs1057524880
dbSNP (old)rs1057524880
ClinGenrs1057524880
ebirs1057524880
HLIrs1057524880
Exacrs1057524880
Gnomadrs1057524880
Varsomers1057524880
LitVarrs1057524880
Maprs1057524880
PheGenIrs1057524880
Biobankrs1057524880
1000 genomesrs1057524880
hgdprs1057524880
ensemblrs1057524880
gopubmedrs1057524880
geneviewrs1057524880
scholarrs1057524880
googlers1057524880
pharmgkbrs1057524880
gwascentralrs1057524880
openSNPrs1057524880
23andMers1057524880
23andMe allrs1057524880
SNPshotrs1057524880
SNPdbers1057524880
MSV3drs1057524880
GWAS Ctlgrs1057524880
Max Magnitude0
ClinVar
Risk rs1057524880(G;G)
Alt rs1057524880(G;G)
Reference Rs1057524880(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SYNJ1
CLNDBN Epileptic encephalopathy, early infantile, 53
Reversed 1
HGVS NC_000021.8:g.34018101T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000445440.1,