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rs139747674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs139747674(C;T)
Make rs139747674(T;T)
ReferenceGRCh38 38.1/142
Chromosome3
Position64157305
GenePRICKLE2
is asnp
is mentioned by
dbSNPrs139747674
ebirs139747674
HLIrs139747674
Exacrs139747674
Varsomers139747674
Maprs139747674
PheGenIrs139747674
hapmaprs139747674
1000 genomesrs139747674
hgdprs139747674
ensemblrs139747674
gopubmedrs139747674
geneviewrs139747674
scholarrs139747674
googlers139747674
pharmgkbrs139747674
gwascentralrs139747674
openSNPrs139747674
23andMers139747674
23andMe allrs139747674
SNP Nexus

SNPshotrs139747674
SNPdbers139747674
MSV3drs139747674
GWAS Ctlgrs139747674
Max Magnitude0
ClinVar
Risk rs139747674(T;T)
Alt rs139747674(T;T)
Reference rs139747674(C;C)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene PRICKLE2
CLNDBN Epilepsy, progressive myoclonic 5
Reversed 0
HGVS NC_000003.11:g.64142981C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023709.4,