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

rs28940569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940569(C;C)
Make rs28940569(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position1780495
GeneCLN8
is asnp
is mentioned by
dbSNPrs28940569
ebirs28940569
HLIrs28940569
Exacrs28940569
Varsomers28940569
Maprs28940569
PheGenIrs28940569
hapmaprs28940569
1000 genomesrs28940569
hgdprs28940569
ensemblrs28940569
gopubmedrs28940569
geneviewrs28940569
scholarrs28940569
googlers28940569
pharmgkbrs28940569
gwascentralrs28940569
openSNPrs28940569
23andMers28940569
23andMe allrs28940569
SNP Nexus

SNPshotrs28940569
SNPdbers28940569
MSV3drs28940569
GWAS Ctlgrs28940569
Max Magnitude0
OMIM607837
DescCEROID LIPOFUSCINOSIS, NEURONAL, 8
Variant0002
Relatedalso


ClinVar
Risk rs28940569(C;C)
Alt rs28940569(C;C)
Reference rs28940569(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 8
Variation info
Gene CLN8
CLNDBN Ceroid lipofuscinosis neuronal 8
Reversed 0
HGVS NC_000008.10:g.1728661G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002937.2,