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rs1057517350

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517350(A;A)
Make rs1057517350(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28482673
GeneCLN3
is asnp
is mentioned by
dbSNPrs1057517350
dbSNP (old)rs1057517350
ClinGenrs1057517350
ebirs1057517350
HLIrs1057517350
Exacrs1057517350
Gnomadrs1057517350
Varsomers1057517350
LitVarrs1057517350
Maprs1057517350
PheGenIrs1057517350
Biobankrs1057517350
1000 genomesrs1057517350
hgdprs1057517350
ensemblrs1057517350
gopubmedrs1057517350
geneviewrs1057517350
scholarrs1057517350
googlers1057517350
pharmgkbrs1057517350
gwascentralrs1057517350
openSNPrs1057517350
23andMers1057517350
23andMe allrs1057517350
SNPshotrs1057517350
SNPdbers1057517350
MSV3drs1057517350
GWAS Ctlgrs1057517350
Max Magnitude0
ClinVar
Risk rs1057517350(A;A)
Alt rs1057517350(A;A)
Reference Rs1057517350(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.28493994C>T
CLNSRC
CLNACC RCV000412040.1,