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rs878853322

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878853322(C;T)
Make rs878853322(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position40078573
GenePPT1
is asnp
is mentioned by
dbSNPrs878853322
ebirs878853322
HLIrs878853322
Exacrs878853322
Varsomers878853322
Maprs878853322
PheGenIrs878853322
hapmaprs878853322
1000 genomesrs878853322
hgdprs878853322
ensemblrs878853322
gopubmedrs878853322
geneviewrs878853322
scholarrs878853322
googlers878853322
pharmgkbrs878853322
gwascentralrs878853322
openSNPrs878853322
23andMers878853322
23andMe allrs878853322
SNP Nexus

SNPshotrs878853322
SNPdbers878853322
MSV3drs878853322
GWAS Ctlgrs878853322
Max Magnitude0
ClinVar
Risk rs878853322(T;T)
Alt rs878853322(T;T)
Reference rs878853322(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40544245G>A
CLNSRC Institute of Human Genetics
CLNACC RCV000225555.1,