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rs104893955

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104893955(G;G)
Make rs104893955(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position145735405
GeneEPM2A, LOC100507557
is asnp
is mentioned by
dbSNPrs104893955
dbSNP (old)rs104893955
ClinGenrs104893955
ebirs104893955
HLIrs104893955
Exacrs104893955
Varsomers104893955
Maprs104893955
PheGenIrs104893955
Biobankrs104893955
1000 genomesrs104893955
hgdprs104893955
ensemblrs104893955
gopubmedrs104893955
geneviewrs104893955
scholarrs104893955
googlers104893955
pharmgkbrs104893955
gwascentralrs104893955
openSNPrs104893955
23andMers104893955
23andMe allrs104893955
SNP Nexus

SNPshotrs104893955
SNPdbers104893955
MSV3drs104893955
GWAS Ctlgrs104893955
Max Magnitude0
OMIM607566
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104893955(G;G)
Alt rs104893955(G;G)
Reference Rs104893955(T;T)
Significance Pathogenic
Disease Lafora disease not provided
Variation info
Gene EPM2A LOC100507557
CLNDBN Lafora disease not provided
Reversed 1
HGVS NC_000006.11:g.146056541A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000003253.6, RCV000494425.1,