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rs137852859

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852859(A;C)
Make rs137852859(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position18121684
GeneNHLRC1
is asnp
is mentioned by
dbSNPrs137852859
ebirs137852859
HLIrs137852859
Exacrs137852859
Varsomers137852859
Maprs137852859
PheGenIrs137852859
hapmaprs137852859
1000 genomesrs137852859
hgdprs137852859
ensemblrs137852859
gopubmedrs137852859
geneviewrs137852859
scholarrs137852859
googlers137852859
pharmgkbrs137852859
gwascentralrs137852859
openSNPrs137852859
23andMers137852859
23andMe allrs137852859
SNP Nexus

SNPshotrs137852859
SNPdbers137852859
MSV3drs137852859
GWAS Ctlgrs137852859
Max Magnitude0
OMIM608072
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852859(C;C)
Alt rs137852859(C;C)
Reference rs137852859(A;A)
Significance Pathogenic
Disease Epilepsy
Variation info
Gene NHLRC1
CLNDBN Epilepsy, progressive myoclonic 2b
Reversed 1
HGVS NC_000006.11:g.18121915T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002710.4,