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rs1057516335

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516335(-;T)
Make rs1057516335(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28484112
GeneCLN3
is asnp
is mentioned by
dbSNPrs1057516335
dbSNP (old)rs1057516335
ClinGenrs1057516335
ebirs1057516335
HLIrs1057516335
Exacrs1057516335
Gnomadrs1057516335
Varsomers1057516335
Maprs1057516335
PheGenIrs1057516335
Biobankrs1057516335
1000 genomesrs1057516335
hgdprs1057516335
ensemblrs1057516335
gopubmedrs1057516335
geneviewrs1057516335
scholarrs1057516335
googlers1057516335
pharmgkbrs1057516335
gwascentralrs1057516335
openSNPrs1057516335
23andMers1057516335
23andMe allrs1057516335
SNPshotrs1057516335
SNPdbers1057516335
MSV3drs1057516335
GWAS Ctlgrs1057516335
Max Magnitude0
ClinVar
Risk rs1057516335(T;T)
Alt rs1057516335(T;T)
Reference Rs1057516335(-;-)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene CLN3 NPIPB8
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28495434dupA
CLNSRC
CLNACC RCV000411858.1,