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rs141554661

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs141554661(A;A)
Make rs141554661(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position46932200
GeneGOSR2
is asnp
is mentioned by
dbSNPrs141554661
dbSNP (classic)rs141554661
ClinGenrs141554661
ebirs141554661
HLIrs141554661
Exacrs141554661
Gnomadrs141554661
Varsomers141554661
LitVarrs141554661
Maprs141554661
PheGenIrs141554661
Biobankrs141554661
1000 genomesrs141554661
hgdprs141554661
ensemblrs141554661
geneviewrs141554661
scholarrs141554661
googlers141554661
pharmgkbrs141554661
gwascentralrs141554661
openSNPrs141554661
23andMers141554661
SNPshotrs141554661
SNPdbers141554661
MSV3drs141554661
GWAS Ctlgrs141554661
Max Magnitude0
ClinVar
Risk rs141554661(A;A)
Alt rs141554661(A;A)
Reference Rs141554661(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.45009566G>A
CLNSRC
CLNACC RCV000194518.1, RCV000198527.1, RCV000439078.1,