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rs786204644

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs786204644(-;-)
Make rs786204644(-;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome13
Position77000669
GeneCLN5, FBXL3
is asnp
is mentioned by
dbSNPrs786204644
dbSNP (classic)rs786204644
ClinGenrs786204644
ebirs786204644
HLIrs786204644
Exacrs786204644
Gnomadrs786204644
Varsomers786204644
LitVarrs786204644
Maprs786204644
PheGenIrs786204644
Biobankrs786204644
1000 genomesrs786204644
hgdprs786204644
ensemblrs786204644
geneviewrs786204644
scholarrs786204644
googlers786204644
pharmgkbrs786204644
gwascentralrs786204644
openSNPrs786204644
23andMers786204644
SNPshotrs786204644
SNPdbers786204644
MSV3drs786204644
GWAS Ctlgrs786204644
Max Magnitude0
ClinVar
Risk rs786204644(-;-)
Alt rs786204644(-;-)
Reference Rs786204644(AT;AT)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 5 not provided Neuronal ceroid lipofuscinosis
Variation info
Gene CLN5
CLNDBN Ceroid lipofuscinosis neuronal 5 not provided Neuronal ceroid lipofuscinosis
Reversed 0
HGVS NC_000013.10:g.77574804_77574805delAT
CLNSRC
CLNACC RCV000169429.1, RCV000413943.1, RCV000468638.1,