Have questions? Visit https://www.reddit.com/r/SNPedia

rs587776542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs587776542(-;-)
Make rs587776542(-;CT)
ReferenceGRCh38 38.1/142
Chromosome6
Position18122138
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs587776542
ebirs587776542
HLIrs587776542
Exacrs587776542
Varsomers587776542
Maprs587776542
PheGenIrs587776542
hapmaprs587776542
1000 genomesrs587776542
hgdprs587776542
ensemblrs587776542
gopubmedrs587776542
geneviewrs587776542
scholarrs587776542
googlers587776542
pharmgkbrs587776542
gwascentralrs587776542
openSNPrs587776542
23andMers587776542
23andMe allrs587776542
SNP Nexus

SNPshotrs587776542
SNPdbers587776542
MSV3drs587776542
GWAS Ctlgrs587776542
Max Magnitude0
ClinVar
Risk rs587776542(;)
Alt rs587776542(;)
Reference rs587776542(CT;CT)
Significance Pathogenic
Disease Epilepsy not provided Lafora disease
Variation info
Gene NHLRC1
CLNDBN Epilepsy, progressive myoclonic 2b not provided Lafora disease
Reversed 0
HGVS NC_000006.11:g.18122369_18122370delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000002706.5, RCV000188221.1, RCV000192029.1,