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rs28940575

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0
(T;T) 0 common in clinvar
Make rs28940575(A;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position18122531
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs28940575
ebirs28940575
HLIrs28940575
Exacrs28940575
Varsomers28940575
Maprs28940575
PheGenIrs28940575
hapmaprs28940575
1000 genomesrs28940575
hgdprs28940575
ensemblrs28940575
gopubmedrs28940575
geneviewrs28940575
scholarrs28940575
googlers28940575
pharmgkbrs28940575
gwascentralrs28940575
openSNPrs28940575
23andMers28940575
23andMe allrs28940575
SNP Nexus

SNPshotrs28940575
SNPdbers28940575
MSV3drs28940575
GWAS Ctlgrs28940575
Max Magnitude0
OMIM608072
DescEPILEPSY, PROGRESSIVE MYOCLONIC 2B
Variant0001
Relatedalso
Neighborrs28940576
Distance129


ClinVar
Risk rs28940575(A;A)
Alt rs28940575(A;A)
Reference rs28940575(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.18122762A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002704.4, RCV000192025.1,