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rs28940576

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28940576(C;G)
Make rs28940576(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position18122402
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs28940576
ebirs28940576
HLIrs28940576
Exacrs28940576
Varsomers28940576
Maprs28940576
PheGenIrs28940576
hapmaprs28940576
1000 genomesrs28940576
hgdprs28940576
ensemblrs28940576
gopubmedrs28940576
geneviewrs28940576
scholarrs28940576
googlers28940576
pharmgkbrs28940576
gwascentralrs28940576
openSNPrs28940576
23andMers28940576
23andMe allrs28940576
SNP Nexus

SNPshotrs28940576
SNPdbers28940576
MSV3drs28940576
GWAS Ctlgrs28940576
Max Magnitude0
OMIM608072
DescEPILEPSY, PROGRESSIVE MYOCLONIC 2B
Variant0002
Relatedalso
Neighborrs28940575
Distance129
Neighborrs10949483
Distance127


ClinVar
Risk rs28940576(G;G)
Alt rs28940576(G;G)
Reference rs28940576(C;C)
Significance Pathogenic
Disease Epilepsy not provided Lafora disease
Variation info
Gene NHLRC1
CLNDBN Epilepsy, progressive myoclonic 2b not provided Lafora disease
Reversed 1
HGVS NC_000006.11:g.18122633G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002705.4, RCV000188208.1, RCV000192026.1,