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rs768241563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs768241563(C;G)
Make rs768241563(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome22
Position31754942
GeneDEPDC5
is asnp
is mentioned by
dbSNPrs768241563
dbSNP (classic)rs768241563
ClinGenrs768241563
ebirs768241563
HLIrs768241563
Exacrs768241563
Gnomadrs768241563
Varsomers768241563
LitVarrs768241563
Maprs768241563
PheGenIrs768241563
Biobankrs768241563
1000 genomesrs768241563
hgdprs768241563
ensemblrs768241563
geneviewrs768241563
scholarrs768241563
googlers768241563
pharmgkbrs768241563
gwascentralrs768241563
openSNPrs768241563
23andMers768241563
SNPshotrs768241563
SNPdbers768241563
MSV3drs768241563
GWAS Ctlgrs768241563
Max Magnitude0
ClinVar
Risk rs768241563(G;G)
Alt rs768241563(G;G)
Reference Rs768241563(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene DEPDC5
CLNDBN Epilepsy, familial focal, with variable foci 1
Reversed 0
HGVS NC_000022.10:g.32150928C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000043579.4,