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rs386833625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833625(-;-)
Make rs386833625(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40097125
GenePPT1
is asnp
is mentioned by
dbSNPrs386833625
ebirs386833625
HLIrs386833625
Exacrs386833625
Varsomers386833625
Maprs386833625
PheGenIrs386833625
hapmaprs386833625
1000 genomesrs386833625
hgdprs386833625
ensemblrs386833625
gopubmedrs386833625
geneviewrs386833625
scholarrs386833625
googlers386833625
pharmgkbrs386833625
gwascentralrs386833625
openSNPrs386833625
23andMers386833625
23andMe allrs386833625
SNP Nexus

SNPshotrs386833625
SNPdbers386833625
MSV3drs386833625
GWAS Ctlgrs386833625
Max Magnitude0
ClinVar
Risk rs386833625(;)
Alt rs386833625(;)
Reference rs386833625(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.40562797delC
CLNSRC ClinVar
CLNACC RCV000049585.1,


[PMID 21990111] Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.