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rs863223401

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AGA;AGA) 0 common in clinvar
Make rs863223401(-;-)
Make rs863223401(-;AGA)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position46938612
GeneGOSR2
is asnp
is mentioned by
dbSNPrs863223401
dbSNP (old)rs863223401
ClinGenrs863223401
ebirs863223401
HLIrs863223401
Exacrs863223401
Gnomadrs863223401
Varsomers863223401
Maprs863223401
PheGenIrs863223401
Biobankrs863223401
1000 genomesrs863223401
hgdprs863223401
ensemblrs863223401
gopubmedrs863223401
geneviewrs863223401
scholarrs863223401
googlers863223401
pharmgkbrs863223401
gwascentralrs863223401
openSNPrs863223401
23andMers863223401
23andMe allrs863223401
SNP Nexus

SNPshotrs863223401
SNPdbers863223401
MSV3drs863223401
GWAS Ctlgrs863223401
Max Magnitude0
ClinVar
Risk rs863223401(-;-)
Alt rs863223401(-;-)
Reference Rs863223401(AGA;AGA)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene GOSR2
CLNDBN Epilepsy, progressive myoclonic 6
Reversed 0
HGVS NC_000017.10:g.45015978_45015980delAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000190901.3,