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rs869025274

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs869025274(C;C)
Make rs869025274(C;G)
ReferenceGRCh38.p2 38.2/147
Chromosome11
Position6617353
GeneTPP1
is asnp
is mentioned by
dbSNPrs869025274
dbSNP (classic)rs869025274
ClinGenrs869025274
ebirs869025274
HLIrs869025274
Exacrs869025274
Gnomadrs869025274
Varsomers869025274
LitVarrs869025274
Maprs869025274
PheGenIrs869025274
Biobankrs869025274
1000 genomesrs869025274
hgdprs869025274
ensemblrs869025274
geneviewrs869025274
scholarrs869025274
googlers869025274
pharmgkbrs869025274
gwascentralrs869025274
openSNPrs869025274
23andMers869025274
SNPshotrs869025274
SNPdbers869025274
MSV3drs869025274
GWAS Ctlgrs869025274
Max Magnitude0
ClinVar
Risk rs869025274(C;C) rs869025274(T;T)
Alt rs869025274(C;C) rs869025274(T;T)
Reference Rs869025274(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.6638584C>G
CLNSRC
CLNACC RCV000207147.1,