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rs387906989

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906989(G;T)
Make rs387906989(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position64099773
GenePRICKLE2, PRICKLE2-AS1
is asnp
is mentioned by
dbSNPrs387906989
dbSNP (classic)rs387906989
ClinGenrs387906989
ebirs387906989
HLIrs387906989
Exacrs387906989
Gnomadrs387906989
Varsomers387906989
LitVarrs387906989
Maprs387906989
PheGenIrs387906989
Biobankrs387906989
1000 genomesrs387906989
hgdprs387906989
ensemblrs387906989
geneviewrs387906989
scholarrs387906989
googlers387906989
pharmgkbrs387906989
gwascentralrs387906989
openSNPrs387906989
23andMers387906989
SNPshotrs387906989
SNPdbers387906989
MSV3drs387906989
GWAS Ctlgrs387906989
Max Magnitude0
ClinVar
Risk rs387906989(T;T)
Alt rs387906989(T;T)
Reference Rs387906989(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene PRICKLE2-AS1 PRICKLE2
CLNDBN Epilepsy, progressive myoclonic 5
Reversed 1
HGVS NC_000003.11:g.64085449C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023710.5,