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rs137852915

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852915(C;T)
Make rs137852915(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position145686276
GeneEPM2A
is asnp
is mentioned by
dbSNPrs137852915
ebirs137852915
HLIrs137852915
Exacrs137852915
Varsomers137852915
Maprs137852915
PheGenIrs137852915
hapmaprs137852915
1000 genomesrs137852915
hgdprs137852915
ensemblrs137852915
gopubmedrs137852915
geneviewrs137852915
scholarrs137852915
googlers137852915
pharmgkbrs137852915
gwascentralrs137852915
openSNPrs137852915
23andMers137852915
23andMe allrs137852915
SNP Nexus

SNPshotrs137852915
SNPdbers137852915
MSV3drs137852915
GWAS Ctlgrs137852915
Max Magnitude0
OMIM607566
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852915(T;T)
Alt rs137852915(T;T)
Reference rs137852915(C;C)
Significance Pathogenic
Disease Lafora disease
Variation info
Gene EPM2A
CLNDBN Lafora disease
Reversed 1
HGVS NC_000006.11:g.146007412G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003246.5,