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rs879255234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs879255234(-;-)
Make rs879255234(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position31804202
GeneDEPDC5
is asnp
is mentioned by
dbSNPrs879255234
dbSNP (classic)rs879255234
ClinGenrs879255234
ebirs879255234
HLIrs879255234
Exacrs879255234
Gnomadrs879255234
Varsomers879255234
LitVarrs879255234
Maprs879255234
PheGenIrs879255234
Biobankrs879255234
1000 genomesrs879255234
hgdprs879255234
ensemblrs879255234
geneviewrs879255234
scholarrs879255234
googlers879255234
pharmgkbrs879255234
gwascentralrs879255234
openSNPrs879255234
23andMers879255234
SNPshotrs879255234
SNPdbers879255234
MSV3drs879255234
GWAS Ctlgrs879255234
Max Magnitude0
ClinVar
Risk rs879255234(-;-)
Alt rs879255234(-;-)
Reference Rs879255234(A;A)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene DEPDC5
CLNDBN Epilepsy, familial focal, with variable foci 1
Reversed 0
HGVS NC_000022.10:g.32200188delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000043583.4,