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rs1057516343

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516343(A;A)
Make rs1057516343(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28491713
GeneCLN3
is asnp
is mentioned by
dbSNPrs1057516343
dbSNP (old)rs1057516343
ClinGenrs1057516343
ebirs1057516343
HLIrs1057516343
Exacrs1057516343
Gnomadrs1057516343
Varsomers1057516343
Maprs1057516343
PheGenIrs1057516343
Biobankrs1057516343
1000 genomesrs1057516343
hgdprs1057516343
ensemblrs1057516343
gopubmedrs1057516343
geneviewrs1057516343
scholarrs1057516343
googlers1057516343
pharmgkbrs1057516343
gwascentralrs1057516343
openSNPrs1057516343
23andMers1057516343
23andMe allrs1057516343
SNPshotrs1057516343
SNPdbers1057516343
MSV3drs1057516343
GWAS Ctlgrs1057516343
Max Magnitude0
ClinVar
Risk rs1057516343(A;A)
Alt rs1057516343(A;A)
Reference Rs1057516343(G;G)
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.28503034C>T
CLNSRC
CLNACC RCV000409491.1,