Have questions? Visit https://www.reddit.com/r/SNPedia

rs878853325

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853325(-;-)
Make rs878853325(-;G)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position40089414
GenePPT1
is asnp
is mentioned by
dbSNPrs878853325
ebirs878853325
HLIrs878853325
Exacrs878853325
Varsomers878853325
Maprs878853325
PheGenIrs878853325
hapmaprs878853325
1000 genomesrs878853325
hgdprs878853325
ensemblrs878853325
gopubmedrs878853325
geneviewrs878853325
scholarrs878853325
googlers878853325
pharmgkbrs878853325
gwascentralrs878853325
openSNPrs878853325
23andMers878853325
23andMe allrs878853325
SNP Nexus

SNPshotrs878853325
SNPdbers878853325
MSV3drs878853325
GWAS Ctlgrs878853325
Max Magnitude0
ClinVar
Risk rs878853325(;)
Alt rs878853325(;)
Reference rs878853325(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40555086delC
CLNSRC Institute of Human Genetics
CLNACC RCV000225536.1,