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rs1057517215

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(CT;CT) 0 common in clinvar
Make rs1057517215(-;-)
Make rs1057517215(-;CT)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28488603
GeneCLN3
is asnp
is mentioned by
dbSNPrs1057517215
dbSNP (old)rs1057517215
ClinGenrs1057517215
ebirs1057517215
HLIrs1057517215
Exacrs1057517215
Gnomadrs1057517215
Varsomers1057517215
Maprs1057517215
PheGenIrs1057517215
Biobankrs1057517215
1000 genomesrs1057517215
hgdprs1057517215
ensemblrs1057517215
gopubmedrs1057517215
geneviewrs1057517215
scholarrs1057517215
googlers1057517215
pharmgkbrs1057517215
gwascentralrs1057517215
openSNPrs1057517215
23andMers1057517215
23andMe allrs1057517215
SNPshotrs1057517215
SNPdbers1057517215
MSV3drs1057517215
GWAS Ctlgrs1057517215
Max Magnitude0
ClinVar
Risk rs1057517215(-;-)
Alt rs1057517215(-;-)
Reference Rs1057517215(CT;CT)
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.28499924_28499925delAG
CLNSRC
CLNACC RCV000409322.1,