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rs1057524877

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057524877(A;G)
Make rs1057524877(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position32657036
GeneSYNJ1
is asnp
is mentioned by
dbSNPrs1057524877
dbSNP (old)rs1057524877
ClinGenrs1057524877
ebirs1057524877
HLIrs1057524877
Exacrs1057524877
Gnomadrs1057524877
Varsomers1057524877
LitVarrs1057524877
Maprs1057524877
PheGenIrs1057524877
Biobankrs1057524877
1000 genomesrs1057524877
hgdprs1057524877
ensemblrs1057524877
gopubmedrs1057524877
geneviewrs1057524877
scholarrs1057524877
googlers1057524877
pharmgkbrs1057524877
gwascentralrs1057524877
openSNPrs1057524877
23andMers1057524877
23andMe allrs1057524877
SNPshotrs1057524877
SNPdbers1057524877
MSV3drs1057524877
GWAS Ctlgrs1057524877
Max Magnitude0
ClinVar
Risk rs1057524877(G;G)
Alt rs1057524877(G;G)
Reference Rs1057524877(A;A)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SYNJ1
CLNDBN Epileptic encephalopathy, early infantile, 53
Reversed 1
HGVS NC_000021.8:g.34029346T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000445434.1,