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rs281865563

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281865563(A;A)
Make rs281865563(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position42468783
GenePRICKLE1
is asnp
is mentioned by
dbSNPrs281865563
ebirs281865563
HLIrs281865563
Exacrs281865563
Varsomers281865563
Maprs281865563
PheGenIrs281865563
hapmaprs281865563
1000 genomesrs281865563
hgdprs281865563
ensemblrs281865563
gopubmedrs281865563
geneviewrs281865563
scholarrs281865563
googlers281865563
pharmgkbrs281865563
gwascentralrs281865563
openSNPrs281865563
23andMers281865563
23andMe allrs281865563
SNP Nexus

SNPshotrs281865563
SNPdbers281865563
MSV3drs281865563
GWAS Ctlgrs281865563
Max Magnitude0
ClinVar
Risk rs281865563(A;A)
Alt rs281865563(A;A)
Reference rs281865563(G;G)
Significance Pathogenic
Disease Progressive myoclonus epilepsy with ataxia not specified
Variation info
Gene PRICKLE1
CLNDBN Progressive myoclonus epilepsy with ataxia not specified
Reversed 1
HGVS NC_000012.11:g.42862585C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023707.5, RCV000188738.1,