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rs1057516667

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516667(C;C)
Make rs1057516667(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6617777
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057516667
dbSNP (old)rs1057516667
ClinGenrs1057516667
ebirs1057516667
HLIrs1057516667
Exacrs1057516667
Gnomadrs1057516667
Varsomers1057516667
Maprs1057516667
PheGenIrs1057516667
Biobankrs1057516667
1000 genomesrs1057516667
hgdprs1057516667
ensemblrs1057516667
gopubmedrs1057516667
geneviewrs1057516667
scholarrs1057516667
googlers1057516667
pharmgkbrs1057516667
gwascentralrs1057516667
openSNPrs1057516667
23andMers1057516667
23andMe allrs1057516667
SNPshotrs1057516667
SNPdbers1057516667
MSV3drs1057516667
GWAS Ctlgrs1057516667
Max Magnitude0
ClinVar
Risk rs1057516667(C;C)
Alt rs1057516667(C;C)
Reference Rs1057516667(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6639008C>G
CLNSRC
CLNACC RCV000410411.1,