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rs1057516264

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516264(-;G)
Make rs1057516264(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6614967
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057516264
dbSNP (old)rs1057516264
ClinGenrs1057516264
ebirs1057516264
HLIrs1057516264
Exacrs1057516264
Gnomadrs1057516264
Varsomers1057516264
Maprs1057516264
PheGenIrs1057516264
Biobankrs1057516264
1000 genomesrs1057516264
hgdprs1057516264
ensemblrs1057516264
gopubmedrs1057516264
geneviewrs1057516264
scholarrs1057516264
googlers1057516264
pharmgkbrs1057516264
gwascentralrs1057516264
openSNPrs1057516264
23andMers1057516264
23andMe allrs1057516264
SNPshotrs1057516264
SNPdbers1057516264
MSV3drs1057516264
GWAS Ctlgrs1057516264
Max Magnitude0
ClinVar
Risk rs1057516264(G;G)
Alt rs1057516264(G;G)
Reference Rs1057516264(-;-)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6636199dupC
CLNSRC
CLNACC RCV000410133.1,