Have questions? Visit https://www.reddit.com/r/SNPedia

rs281865564

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs281865564(C;C)
Make rs281865564(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position42464620
GenePRICKLE1
is asnp
is mentioned by
dbSNPrs281865564
ebirs281865564
HLIrs281865564
Exacrs281865564
Varsomers281865564
Maprs281865564
PheGenIrs281865564
hapmaprs281865564
1000 genomesrs281865564
hgdprs281865564
ensemblrs281865564
gopubmedrs281865564
geneviewrs281865564
scholarrs281865564
googlers281865564
pharmgkbrs281865564
gwascentralrs281865564
openSNPrs281865564
23andMers281865564
23andMe allrs281865564
SNP Nexus

SNPshotrs281865564
SNPdbers281865564
MSV3drs281865564
GWAS Ctlgrs281865564
Max Magnitude0
ClinVar
Risk rs281865564(C;C)
Alt rs281865564(C;C)
Reference rs281865564(T;T)
Significance Pathogenic
Disease Progressive myoclonus epilepsy with ataxia
Variation info
Gene PRICKLE1
CLNDBN Progressive myoclonus epilepsy with ataxia
Reversed 1
HGVS NC_000012.11:g.42858422A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000023708.5,