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rs137852916

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852916(A;A)
Make rs137852916(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position145635451
GeneEPM2A
is asnp
is mentioned by
dbSNPrs137852916
ebirs137852916
HLIrs137852916
Exacrs137852916
Varsomers137852916
Maprs137852916
PheGenIrs137852916
hapmaprs137852916
1000 genomesrs137852916
hgdprs137852916
ensemblrs137852916
gopubmedrs137852916
geneviewrs137852916
scholarrs137852916
googlers137852916
pharmgkbrs137852916
gwascentralrs137852916
openSNPrs137852916
23andMers137852916
23andMe allrs137852916
SNP Nexus

SNPshotrs137852916
SNPdbers137852916
MSV3drs137852916
GWAS Ctlgrs137852916
Max Magnitude0
OMIM607566
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852916(A;A)
Alt rs137852916(A;A)
Reference rs137852916(G;G)
Significance Pathogenic
Disease Lafora disease
Variation info
Gene EPM2A
CLNDBN Lafora disease
Reversed 1
HGVS NC_000006.11:g.145956587C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003248.6,