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rs755445790

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs755445790(C;C)
Make rs755445790(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position6616513
GeneTPP1
is asnp
is mentioned by
dbSNPrs755445790
dbSNP (classic)rs755445790
ClinGenrs755445790
ebirs755445790
HLIrs755445790
Exacrs755445790
Gnomadrs755445790
Varsomers755445790
LitVarrs755445790
Maprs755445790
PheGenIrs755445790
Biobankrs755445790
1000 genomesrs755445790
hgdprs755445790
ensemblrs755445790
geneviewrs755445790
scholarrs755445790
googlers755445790
pharmgkbrs755445790
gwascentralrs755445790
openSNPrs755445790
23andMers755445790
SNPshotrs755445790
SNPdbers755445790
MSV3drs755445790
GWAS Ctlgrs755445790
Max Magnitude0
ClinVar
Risk rs755445790(C;C)
Alt rs755445790(C;C)
Reference Rs755445790(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 2 not specified
Variation info
Gene TPP1
CLNDBN Ceroid lipofuscinosis neuronal 2 not specified
Reversed 0
HGVS NC_000011.9:g.6637744T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000002768.3, RCV000359791.1,