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rs1060501488

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1060501488(A;A)
Make rs1060501488(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position31778119
GeneDEPDC5
is asnp
is mentioned by
dbSNPrs1060501488
dbSNP (classic)rs1060501488
ClinGenrs1060501488
ebirs1060501488
HLIrs1060501488
Exacrs1060501488
Gnomadrs1060501488
Varsomers1060501488
LitVarrs1060501488
Maprs1060501488
PheGenIrs1060501488
Biobankrs1060501488
1000 genomesrs1060501488
hgdprs1060501488
ensemblrs1060501488
geneviewrs1060501488
scholarrs1060501488
googlers1060501488
pharmgkbrs1060501488
gwascentralrs1060501488
openSNPrs1060501488
23andMers1060501488
SNPshotrs1060501488
SNPdbers1060501488
MSV3drs1060501488
GWAS Ctlgrs1060501488
Max Magnitude0
ClinVar
Risk rs1060501488(A;A)
Alt rs1060501488(A;A)
Reference Rs1060501488(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene DEPDC5
CLNDBN Epilepsy, familial focal, with variable foci 1
Reversed 0
HGVS NC_000022.10:g.32174105G>A
CLNSRC
CLNACC RCV000474159.1,