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rs387906881

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906881(G;T)
Make rs387906881(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position46935122
GeneGOSR2
is asnp
is mentioned by
dbSNPrs387906881
dbSNP (classic)rs387906881
ClinGenrs387906881
ebirs387906881
HLIrs387906881
Exacrs387906881
Gnomadrs387906881
Varsomers387906881
LitVarrs387906881
Maprs387906881
PheGenIrs387906881
Biobankrs387906881
1000 genomesrs387906881
hgdprs387906881
ensemblrs387906881
geneviewrs387906881
scholarrs387906881
googlers387906881
pharmgkbrs387906881
gwascentralrs387906881
openSNPrs387906881
23andMers387906881
SNPshotrs387906881
SNPdbers387906881
MSV3drs387906881
GWAS Ctlgrs387906881
Max Magnitude0
ClinVar
Risk rs387906881(T;T)
Alt rs387906881(T;T)
Reference Rs387906881(G;G)
Significance Pathogenic
Disease Epilepsy not provided
Variation info
Gene GOSR2
CLNDBN Epilepsy, progressive myoclonic 6 not provided
Reversed 0
HGVS NC_000017.10:g.45012488G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023359.5, RCV000198527.1, RCV000478768.1,