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rs878853929

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs878853929(G;T)
Make rs878853929(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position40076841
GenePPT1
is asnp
is mentioned by
dbSNPrs878853929
ebirs878853929
HLIrs878853929
Exacrs878853929
Varsomers878853929
Maprs878853929
PheGenIrs878853929
hapmaprs878853929
1000 genomesrs878853929
hgdprs878853929
ensemblrs878853929
gopubmedrs878853929
geneviewrs878853929
scholarrs878853929
googlers878853929
pharmgkbrs878853929
gwascentralrs878853929
openSNPrs878853929
23andMers878853929
23andMe allrs878853929
SNP Nexus

SNPshotrs878853929
SNPdbers878853929
MSV3drs878853929
GWAS Ctlgrs878853929
Max Magnitude0
ClinVar
Risk rs878853929(T;T)
Alt rs878853929(T;T)
Reference rs878853929(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.40542513C>A
CLNSRC
CLNACC RCV000228420.1,