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rs113994140

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs113994140(A;A)
Make rs113994140(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position42469523
GenePRICKLE1
is asnp
is mentioned by
dbSNPrs113994140
ebirs113994140
HLIrs113994140
Exacrs113994140
Varsomers113994140
Maprs113994140
PheGenIrs113994140
hapmaprs113994140
1000 genomesrs113994140
hgdprs113994140
ensemblrs113994140
gopubmedrs113994140
geneviewrs113994140
scholarrs113994140
googlers113994140
pharmgkbrs113994140
gwascentralrs113994140
openSNPrs113994140
23andMers113994140
23andMe allrs113994140
SNP Nexus

SNPshotrs113994140
SNPdbers113994140
MSV3drs113994140
GWAS Ctlgrs113994140
Max Magnitude0
OMIM608500
Desc
Variant0001
Relatedalso
ClinVar
Risk rs113994140(A;A)
Alt rs113994140(A;A)
Reference rs113994140(G;G)
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.42863325C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002373.3,