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rs386833635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833635(-;-)
Make rs386833635(-;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092457
GenePPT1
is asnp
is mentioned by
dbSNPrs386833635
ebirs386833635
HLIrs386833635
Exacrs386833635
Varsomers386833635
Maprs386833635
PheGenIrs386833635
hapmaprs386833635
1000 genomesrs386833635
hgdprs386833635
ensemblrs386833635
gopubmedrs386833635
geneviewrs386833635
scholarrs386833635
googlers386833635
pharmgkbrs386833635
gwascentralrs386833635
openSNPrs386833635
23andMers386833635
23andMe allrs386833635
SNP Nexus

SNPshotrs386833635
SNPdbers386833635
MSV3drs386833635
GWAS Ctlgrs386833635
Max Magnitude0
ClinVar
Risk rs386833635(;)
Alt rs386833635(;)
Reference rs386833635(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.40558129delC
CLNSRC ClinVar
CLNACC RCV000049594.1,


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