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rs386833628

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833628(A;A)
Make rs386833628(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40097114
GenePPT1
is asnp
is mentioned by
dbSNPrs386833628
ebirs386833628
HLIrs386833628
Exacrs386833628
Varsomers386833628
Maprs386833628
PheGenIrs386833628
hapmaprs386833628
1000 genomesrs386833628
hgdprs386833628
ensemblrs386833628
gopubmedrs386833628
geneviewrs386833628
scholarrs386833628
googlers386833628
pharmgkbrs386833628
gwascentralrs386833628
openSNPrs386833628
23andMers386833628
23andMe allrs386833628
SNP Nexus

SNPshotrs386833628
SNPdbers386833628
MSV3drs386833628
GWAS Ctlgrs386833628
Max Magnitude0
ClinVar
Risk rs386833628(A;A)
Alt rs386833628(A;A)
Reference rs386833628(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40562786C>T
CLNSRC ClinVar
CLNACC RCV000049587.1,


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