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rs587776543

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(GA;GA) 0 common in clinvar
Make rs587776543(-;-)
Make rs587776543(-;C)
ReferenceGRCh38 38.1/142
Chromosome6
Position18121615
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs587776543
ebirs587776543
HLIrs587776543
Exacrs587776543
Varsomers587776543
Maprs587776543
PheGenIrs587776543
hapmaprs587776543
1000 genomesrs587776543
hgdprs587776543
ensemblrs587776543
gopubmedrs587776543
geneviewrs587776543
scholarrs587776543
googlers587776543
pharmgkbrs587776543
gwascentralrs587776543
openSNPrs587776543
23andMers587776543
23andMe allrs587776543
SNP Nexus

SNPshotrs587776543
SNPdbers587776543
MSV3drs587776543
GWAS Ctlgrs587776543
Max Magnitude0
ClinVar
Risk rs587776543(CA,A;CA,A)
Alt rs587776543(CA,A;CA,A)
Reference rs587776543(GA;GA)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene NHLRC1
CLNDBN Epilepsy, progressive myoclonic 2b
Reversed 1
HGVS NC_000006.11:g.18121846delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002707.5,