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rs797045065

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045065(-;-)
Make rs797045065(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position64159956
GenePRICKLE2
is asnp
is mentioned by
dbSNPrs797045065
dbSNP (classic)rs797045065
ClinGenrs797045065
ebirs797045065
HLIrs797045065
Exacrs797045065
Gnomadrs797045065
Varsomers797045065
LitVarrs797045065
Maprs797045065
PheGenIrs797045065
Biobankrs797045065
1000 genomesrs797045065
hgdprs797045065
ensemblrs797045065
geneviewrs797045065
scholarrs797045065
googlers797045065
pharmgkbrs797045065
gwascentralrs797045065
openSNPrs797045065
23andMers797045065
SNPshotrs797045065
SNPdbers797045065
MSV3drs797045065
GWAS Ctlgrs797045065
Max Magnitude0
ClinVar
Risk rs797045065(-;-)
Alt rs797045065(-;-)
Reference Rs797045065(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene PRICKLE2
CLNDBN Epilepsy, progressive myoclonic 5
Reversed 1
HGVS NC_000003.11:g.64145632delC
CLNSRC Baylor College of Medicine
CLNACC RCV000191122.1,