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rs878853323

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853323(C;C)
Make rs878853323(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position40092499
GenePPT1
is asnp
is mentioned by
dbSNPrs878853323
ebirs878853323
HLIrs878853323
Exacrs878853323
Varsomers878853323
Maprs878853323
PheGenIrs878853323
hapmaprs878853323
1000 genomesrs878853323
hgdprs878853323
ensemblrs878853323
gopubmedrs878853323
geneviewrs878853323
scholarrs878853323
googlers878853323
pharmgkbrs878853323
gwascentralrs878853323
openSNPrs878853323
23andMers878853323
23andMe allrs878853323
SNP Nexus

SNPshotrs878853323
SNPdbers878853323
MSV3drs878853323
GWAS Ctlgrs878853323
Max Magnitude0
ClinVar
Risk rs878853323(C;C)
Alt rs878853323(C;C)
Reference rs878853323(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40558171A>G
CLNSRC Institute of Human Genetics
CLNACC RCV000225611.1,