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rs794729218

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729218(-;-)
Make rs794729218(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position76995933
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs794729218
dbSNP (classic)rs794729218
ClinGenrs794729218
ebirs794729218
HLIrs794729218
Exacrs794729218
Gnomadrs794729218
Varsomers794729218
LitVarrs794729218
Maprs794729218
PheGenIrs794729218
Biobankrs794729218
1000 genomesrs794729218
hgdprs794729218
ensemblrs794729218
geneviewrs794729218
scholarrs794729218
googlers794729218
pharmgkbrs794729218
gwascentralrs794729218
openSNPrs794729218
23andMers794729218
SNPshotrs794729218
SNPdbers794729218
MSV3drs794729218
GWAS Ctlgrs794729218
Max Magnitude0
ClinVar
Risk rs794729218(-;-)
Alt rs794729218(-;-)
Reference Rs794729218(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.77570068delG
CLNSRC
CLNACC RCV000184038.1,