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rs104893950

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893950(C;T)
Make rs104893950(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position145627691
GeneEPM2A
is asnp
is mentioned by
dbSNPrs104893950
ebirs104893950
HLIrs104893950
Exacrs104893950
Varsomers104893950
Maprs104893950
PheGenIrs104893950
hapmaprs104893950
1000 genomesrs104893950
hgdprs104893950
ensemblrs104893950
gopubmedrs104893950
geneviewrs104893950
scholarrs104893950
googlers104893950
pharmgkbrs104893950
gwascentralrs104893950
openSNPrs104893950
23andMers104893950
23andMe allrs104893950
SNP Nexus

SNPshotrs104893950
SNPdbers104893950
MSV3drs104893950
GWAS Ctlgrs104893950
Max Magnitude0
OMIM607566
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104893950(T;T)
Alt rs104893950(T;T)
Reference rs104893950(C;C)
Significance Pathogenic
Disease Lafora disease not provided
Variation info
Gene EPM2A
CLNDBN Lafora disease not provided
Reversed 1
HGVS NC_000006.11:g.145948827G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003244.6, RCV000187394.1,