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rs137852917

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852917(A;A)
Make rs137852917(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position145627577
GeneEPM2A
is asnp
is mentioned by
dbSNPrs137852917
ebirs137852917
HLIrs137852917
Exacrs137852917
Varsomers137852917
Maprs137852917
PheGenIrs137852917
hapmaprs137852917
1000 genomesrs137852917
hgdprs137852917
ensemblrs137852917
gopubmedrs137852917
geneviewrs137852917
scholarrs137852917
googlers137852917
pharmgkbrs137852917
gwascentralrs137852917
openSNPrs137852917
23andMers137852917
23andMe allrs137852917
SNP Nexus

SNPshotrs137852917
SNPdbers137852917
MSV3drs137852917
GWAS Ctlgrs137852917
Max Magnitude0
OMIM607566
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852917(A,T;A,T)
Alt rs137852917(A,T;A,T)
Reference rs137852917(G;G)
Significance Pathogenic
Disease Lafora disease
Variation info
Gene EPM2A
CLNDBN Lafora disease
Reversed 1
HGVS NC_000006.11:g.145948713C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003245.7,