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rs386833664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833664(A;T)
Make rs386833664(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40076915
GenePPT1
is asnp
is mentioned by
dbSNPrs386833664
ebirs386833664
HLIrs386833664
Exacrs386833664
Varsomers386833664
Maprs386833664
PheGenIrs386833664
hapmaprs386833664
1000 genomesrs386833664
hgdprs386833664
ensemblrs386833664
gopubmedrs386833664
geneviewrs386833664
scholarrs386833664
googlers386833664
pharmgkbrs386833664
gwascentralrs386833664
openSNPrs386833664
23andMers386833664
23andMe allrs386833664
SNP Nexus

SNPshotrs386833664
SNPdbers386833664
MSV3drs386833664
GWAS Ctlgrs386833664
Max Magnitude0
ClinVar
Risk rs386833664(T;T)
Alt rs386833664(T;T)
Reference rs386833664(A;A)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1 not provided
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1 not provided
Reversed 1
HGVS NC_000001.10:g.40542587T>A
CLNSRC ClinVar
CLNACC RCV000049624.1, RCV000224164.1,


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