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rs121917876

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121917876(A;A)
Make rs121917876(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position18122014
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs121917876
ebirs121917876
HLIrs121917876
Exacrs121917876
Varsomers121917876
Maprs121917876
PheGenIrs121917876
hapmaprs121917876
1000 genomesrs121917876
hgdprs121917876
ensemblrs121917876
gopubmedrs121917876
geneviewrs121917876
scholarrs121917876
googlers121917876
pharmgkbrs121917876
gwascentralrs121917876
openSNPrs121917876
23andMers121917876
23andMe allrs121917876
SNP Nexus

SNPshotrs121917876
SNPdbers121917876
MSV3drs121917876
GWAS Ctlgrs121917876
Max Magnitude0
ClinVar
Risk rs121917876(A;A)
Alt rs121917876(A;A)
Reference rs121917876(T;T)
Significance Pathogenic
Disease Epilepsy Lafora disease
Variation info
Gene NHLRC1
CLNDBN Epilepsy, progressive myoclonic 2b Lafora disease
Reversed 1
HGVS NC_000006.11:g.18122245A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002709.4, RCV000192028.1,