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rs878853324

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs878853324(A;A)
Make rs878853324(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position40078579
GenePPT1
is asnp
is mentioned by
dbSNPrs878853324
ebirs878853324
HLIrs878853324
Exacrs878853324
Varsomers878853324
Maprs878853324
PheGenIrs878853324
hapmaprs878853324
1000 genomesrs878853324
hgdprs878853324
ensemblrs878853324
gopubmedrs878853324
geneviewrs878853324
scholarrs878853324
googlers878853324
pharmgkbrs878853324
gwascentralrs878853324
openSNPrs878853324
23andMers878853324
23andMe allrs878853324
SNP Nexus

SNPshotrs878853324
SNPdbers878853324
MSV3drs878853324
GWAS Ctlgrs878853324
Max Magnitude0
ClinVar
Risk rs878853324(A;A)
Alt rs878853324(A;A)
Reference rs878853324(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.40544251A>T
CLNSRC Institute of Human Genetics
CLNACC RCV000225429.1,