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rs1057517287

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517287(G;T)
Make rs1057517287(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28486346
GeneCLN3
is asnp
is mentioned by
dbSNPrs1057517287
dbSNP (old)rs1057517287
ClinGenrs1057517287
ebirs1057517287
HLIrs1057517287
Exacrs1057517287
Gnomadrs1057517287
Varsomers1057517287
Maprs1057517287
PheGenIrs1057517287
Biobankrs1057517287
1000 genomesrs1057517287
hgdprs1057517287
ensemblrs1057517287
gopubmedrs1057517287
geneviewrs1057517287
scholarrs1057517287
googlers1057517287
pharmgkbrs1057517287
gwascentralrs1057517287
openSNPrs1057517287
23andMers1057517287
23andMe allrs1057517287
SNPshotrs1057517287
SNPdbers1057517287
MSV3drs1057517287
GWAS Ctlgrs1057517287
Max Magnitude0
ClinVar
Risk rs1057517287(T;T)
Alt rs1057517287(T;T)
Reference Rs1057517287(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.28497667C>A
CLNSRC
CLNACC RCV000410679.1,