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rs1057516267

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516267(A;A)
Make rs1057516267(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28482326
GeneCLN3
is asnp
is mentioned by
dbSNPrs1057516267
dbSNP (old)rs1057516267
ClinGenrs1057516267
ebirs1057516267
HLIrs1057516267
Exacrs1057516267
Gnomadrs1057516267
Varsomers1057516267
Maprs1057516267
PheGenIrs1057516267
Biobankrs1057516267
1000 genomesrs1057516267
hgdprs1057516267
ensemblrs1057516267
gopubmedrs1057516267
geneviewrs1057516267
scholarrs1057516267
googlers1057516267
pharmgkbrs1057516267
gwascentralrs1057516267
openSNPrs1057516267
23andMers1057516267
23andMe allrs1057516267
SNPshotrs1057516267
SNPdbers1057516267
MSV3drs1057516267
GWAS Ctlgrs1057516267
Max Magnitude0
ClinVar
Risk rs1057516267(A;A)
Alt rs1057516267(A;A)
Reference Rs1057516267(G;G)
Significance Probable-Pathogenic
Disease Juvenile neuronal ceroid lipofuscinosis
Variation info
Gene NPIPB8 CLN3
CLNDBN Juvenile neuronal ceroid lipofuscinosis
Reversed 1
HGVS NC_000016.9:g.28493647C>T
CLNSRC
CLNACC RCV000409352.1,