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rs398122387

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122387(-;-)
Make rs398122387(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position205059099
GeneCNTN2
is asnp
is mentioned by
dbSNPrs398122387
ebirs398122387
HLIrs398122387
Exacrs398122387
Varsomers398122387
Maprs398122387
PheGenIrs398122387
hapmaprs398122387
1000 genomesrs398122387
hgdprs398122387
ensemblrs398122387
gopubmedrs398122387
geneviewrs398122387
scholarrs398122387
googlers398122387
pharmgkbrs398122387
gwascentralrs398122387
openSNPrs398122387
23andMers398122387
23andMe allrs398122387
SNP Nexus

SNPshotrs398122387
SNPdbers398122387
MSV3drs398122387
GWAS Ctlgrs398122387
Max Magnitude0
ClinVar
Risk rs398122387(;)
Alt rs398122387(;)
Reference rs398122387(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene CNTN2
CLNDBN Epilepsy, familial adult myoclonic, 5
Reversed 0
HGVS NC_000001.10:g.205028227delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000054805.19,