Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516677(A;A)
Make rs1057516677(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position28477875
GeneCLN3
is asnp
is mentioned by
dbSNPrs1057516677
dbSNP (old)rs1057516677
ClinGenrs1057516677
ebirs1057516677
HLIrs1057516677
Exacrs1057516677
Gnomadrs1057516677
Varsomers1057516677
Maprs1057516677
PheGenIrs1057516677
Biobankrs1057516677
1000 genomesrs1057516677
hgdprs1057516677
ensemblrs1057516677
gopubmedrs1057516677
geneviewrs1057516677
scholarrs1057516677
googlers1057516677
pharmgkbrs1057516677
gwascentralrs1057516677
openSNPrs1057516677
23andMers1057516677
23andMe allrs1057516677
SNPshotrs1057516677
SNPdbers1057516677
MSV3drs1057516677
GWAS Ctlgrs1057516677
Max Magnitude0
ClinVar
Risk rs1057516677(A;A)
Alt rs1057516677(A;A)
Reference Rs1057516677(C;C)
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.28489196G>T
CLNSRC
CLNACC RCV000410540.1,