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rs1057516366

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057516366(-;T)
Make rs1057516366(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position6617052
GeneTPP1
is asnp
is mentioned by
dbSNPrs1057516366
dbSNP (old)rs1057516366
ClinGenrs1057516366
ebirs1057516366
HLIrs1057516366
Exacrs1057516366
Gnomadrs1057516366
Varsomers1057516366
Maprs1057516366
PheGenIrs1057516366
Biobankrs1057516366
1000 genomesrs1057516366
hgdprs1057516366
ensemblrs1057516366
gopubmedrs1057516366
geneviewrs1057516366
scholarrs1057516366
googlers1057516366
pharmgkbrs1057516366
gwascentralrs1057516366
openSNPrs1057516366
23andMers1057516366
23andMe allrs1057516366
SNPshotrs1057516366
SNPdbers1057516366
MSV3drs1057516366
GWAS Ctlgrs1057516366
Max Magnitude0
ClinVar
Risk rs1057516366(T;T)
Alt rs1057516366(T;T)
Reference Rs1057516366(-;-)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 2
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2
Reversed 1
HGVS NC_000011.9:g.6638284dupA
CLNSRC
CLNACC RCV000409411.1,