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rs28940280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28940280(A;A)
Make rs28940280(A;G)
ReferenceGRCh38 38.1/141
Chromosome13
Position77000580
GeneCLN5
is asnp
is mentioned by
dbSNPrs28940280
ebirs28940280
HLIrs28940280
Exacrs28940280
Varsomers28940280
Maprs28940280
PheGenIrs28940280
hapmaprs28940280
1000 genomesrs28940280
hgdprs28940280
ensemblrs28940280
gopubmedrs28940280
geneviewrs28940280
scholarrs28940280
googlers28940280
pharmgkbrs28940280
gwascentralrs28940280
openSNPrs28940280
23andMers28940280
23andMe allrs28940280
SNP Nexus

SNPshotrs28940280
SNPdbers28940280
MSV3drs28940280
GWAS Ctlgrs28940280
Max Magnitude0
OMIM608102
DescCEROID LIPOFUSCINOSIS, NEURONAL, 5
Variant0003
Relatedalso


ClinVar
Risk rs28940280(A;A)
Alt rs28940280(A;A)
Reference rs28940280(G;G)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5
Reversed 0
HGVS NC_000013.10:g.77574715G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002675.3,