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rs387906988

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906988(A;A)
Make rs387906988(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position64157319
GenePRICKLE2
is asnp
is mentioned by
dbSNPrs387906988
ebirs387906988
HLIrs387906988
Exacrs387906988
Varsomers387906988
Maprs387906988
PheGenIrs387906988
hapmaprs387906988
1000 genomesrs387906988
hgdprs387906988
ensemblrs387906988
gopubmedrs387906988
geneviewrs387906988
scholarrs387906988
googlers387906988
pharmgkbrs387906988
gwascentralrs387906988
openSNPrs387906988
23andMers387906988
23andMe allrs387906988
SNP Nexus

SNPshotrs387906988
SNPdbers387906988
MSV3drs387906988
GWAS Ctlgrs387906988
Max Magnitude0
ClinVar
Risk rs387906988(A;A)
Alt rs387906988(A;A)
Reference rs387906988(G;G)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene PRICKLE2
CLNDBN Epilepsy, progressive myoclonic 5
Reversed 1
HGVS NC_000003.11:g.64142995C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023709.4,