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rs386833660

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833660(-;-)
Make rs386833660(-;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position40078642
GenePPT1
is asnp
is mentioned by
dbSNPrs386833660
ebirs386833660
HLIrs386833660
Exacrs386833660
Varsomers386833660
Maprs386833660
PheGenIrs386833660
hapmaprs386833660
1000 genomesrs386833660
hgdprs386833660
ensemblrs386833660
gopubmedrs386833660
geneviewrs386833660
scholarrs386833660
googlers386833660
pharmgkbrs386833660
gwascentralrs386833660
openSNPrs386833660
23andMers386833660
23andMe allrs386833660
SNP Nexus

SNPshotrs386833660
SNPdbers386833660
MSV3drs386833660
GWAS Ctlgrs386833660
Max Magnitude0
ClinVar
Risk rs386833660(;)
Alt rs386833660(;)
Reference rs386833660(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40544314delT
CLNSRC ClinVar
CLNACC RCV000049620.1,


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