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rs587776554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776554(-;-)
Make rs587776554(-;A)
Make rs587776554(A;A)
ReferenceGRCh38 38.1/142
Chromosome6
Position145627462
GeneEPM2A
is asnp
is mentioned by
dbSNPrs587776554
ebirs587776554
HLIrs587776554
Exacrs587776554
Varsomers587776554
Maprs587776554
PheGenIrs587776554
hapmaprs587776554
1000 genomesrs587776554
hgdprs587776554
ensemblrs587776554
gopubmedrs587776554
geneviewrs587776554
scholarrs587776554
googlers587776554
pharmgkbrs587776554
gwascentralrs587776554
openSNPrs587776554
23andMers587776554
23andMe allrs587776554
SNP Nexus

SNPshotrs587776554
SNPdbers587776554
MSV3drs587776554
GWAS Ctlgrs587776554
Max Magnitude0
ClinVar
Risk rs587776554(A;A)
Alt rs587776554(A;A)
Reference rs587776554(;)
Significance Pathogenic
Disease Lafora disease
Variation info
Gene EPM2A
CLNDBN Lafora disease
Reversed 0
HGVS NC_000006.11:g.145948598dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000003252.5,