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rs386833667

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833667(-;-)
Make rs386833667(-;A)
Make rs386833667(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position40076865
GenePPT1
is asnp
is mentioned by
dbSNPrs386833667
ebirs386833667
HLIrs386833667
Exacrs386833667
Varsomers386833667
Maprs386833667
PheGenIrs386833667
hapmaprs386833667
1000 genomesrs386833667
hgdprs386833667
ensemblrs386833667
gopubmedrs386833667
geneviewrs386833667
scholarrs386833667
googlers386833667
pharmgkbrs386833667
gwascentralrs386833667
openSNPrs386833667
23andMers386833667
23andMe allrs386833667
SNP Nexus

SNPshotrs386833667
SNPdbers386833667
MSV3drs386833667
GWAS Ctlgrs386833667
Max Magnitude0
ClinVar
Risk rs386833667(A;A)
Alt rs386833667(A;A)
Reference rs386833667(;)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40542538dupT
CLNSRC ClinVar
CLNACC RCV000049627.1,


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