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rs1057524878

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057524878(A;A)
Make rs1057524878(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome21
Position32657766
GeneSYNJ1
is asnp
is mentioned by
dbSNPrs1057524878
dbSNP (classic)rs1057524878
ClinGenrs1057524878
ebirs1057524878
HLIrs1057524878
Exacrs1057524878
Gnomadrs1057524878
Varsomers1057524878
LitVarrs1057524878
Maprs1057524878
PheGenIrs1057524878
Biobankrs1057524878
1000 genomesrs1057524878
hgdprs1057524878
ensemblrs1057524878
geneviewrs1057524878
scholarrs1057524878
googlers1057524878
pharmgkbrs1057524878
gwascentralrs1057524878
openSNPrs1057524878
23andMers1057524878
23andMe allrs1057524878
SNPshotrs1057524878
SNPdbers1057524878
MSV3drs1057524878
GWAS Ctlgrs1057524878
Max Magnitude0
ClinVar
Risk rs1057524878(A;A)
Alt rs1057524878(A;A)
Reference Rs1057524878(G;G)
Significance Pathogenic
Disease Epileptic encephalopathy
Variation info
Gene SYNJ1
CLNDBN Epileptic encephalopathy, early infantile, 53
Reversed 1
HGVS NC_000021.8:g.34030076C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000445520.1,