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rs386833653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833653(-;-)
Make rs386833653(-;C)
Make rs386833653(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position40080485
GenePPT1
is asnp
is mentioned by
dbSNPrs386833653
ebirs386833653
HLIrs386833653
Exacrs386833653
Varsomers386833653
Maprs386833653
PheGenIrs386833653
hapmaprs386833653
1000 genomesrs386833653
hgdprs386833653
ensemblrs386833653
gopubmedrs386833653
geneviewrs386833653
scholarrs386833653
googlers386833653
pharmgkbrs386833653
gwascentralrs386833653
openSNPrs386833653
23andMers386833653
23andMe allrs386833653
SNP Nexus

SNPshotrs386833653
SNPdbers386833653
MSV3drs386833653
GWAS Ctlgrs386833653
Max Magnitude0
ClinVar
Risk rs386833653(C;C)
Alt rs386833653(C;C)
Reference rs386833653(;)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40546158dupG
CLNSRC ClinVar
CLNACC RCV000049612.1,


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