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rs386833668

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833668(C;T)
Make rs386833668(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40074111
GenePPT1
is asnp
is mentioned by
dbSNPrs386833668
ebirs386833668
HLIrs386833668
Exacrs386833668
Varsomers386833668
Maprs386833668
PheGenIrs386833668
hapmaprs386833668
1000 genomesrs386833668
hgdprs386833668
ensemblrs386833668
gopubmedrs386833668
geneviewrs386833668
scholarrs386833668
googlers386833668
pharmgkbrs386833668
gwascentralrs386833668
openSNPrs386833668
23andMers386833668
23andMe allrs386833668
SNP Nexus

SNPshotrs386833668
SNPdbers386833668
MSV3drs386833668
GWAS Ctlgrs386833668
Max Magnitude0
ClinVar
Risk rs386833668(T;T)
Alt rs386833668(T;T)
Reference rs386833668(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40539783G>A
CLNSRC ClinVar
CLNACC RCV000049628.1,


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