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rs587776553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587776553(-;-)
Make rs587776553(-;T)
Make rs587776553(T;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position145686263
GeneEPM2A
is asnp
is mentioned by
dbSNPrs587776553
ebirs587776553
HLIrs587776553
Exacrs587776553
Varsomers587776553
Maprs587776553
PheGenIrs587776553
hapmaprs587776553
1000 genomesrs587776553
hgdprs587776553
ensemblrs587776553
gopubmedrs587776553
geneviewrs587776553
scholarrs587776553
googlers587776553
pharmgkbrs587776553
gwascentralrs587776553
openSNPrs587776553
23andMers587776553
23andMe allrs587776553
SNP Nexus

SNPshotrs587776553
SNPdbers587776553
MSV3drs587776553
GWAS Ctlgrs587776553
Max Magnitude0
ClinVar
Risk rs587776553(T;T)
Alt rs587776553(T;T)
Reference rs587776553(;)
Significance Pathogenic
Disease Lafora disease
Variation info
Gene EPM2A
CLNDBN Lafora disease
Reversed 0
HGVS NC_000006.11:g.146007399dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000003247.6,