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rs386833627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833627(A;A)
Make rs386833627(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40097122
GenePPT1
is asnp
is mentioned by
dbSNPrs386833627
ebirs386833627
HLIrs386833627
Exacrs386833627
Varsomers386833627
Maprs386833627
PheGenIrs386833627
hapmaprs386833627
1000 genomesrs386833627
hgdprs386833627
ensemblrs386833627
gopubmedrs386833627
geneviewrs386833627
scholarrs386833627
googlers386833627
pharmgkbrs386833627
gwascentralrs386833627
openSNPrs386833627
23andMers386833627
23andMe allrs386833627
SNP Nexus

SNPshotrs386833627
SNPdbers386833627
MSV3drs386833627
GWAS Ctlgrs386833627
Max Magnitude0
ClinVar
Risk rs386833627(A;A)
Alt rs386833627(A;A)
Reference rs386833627(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40562794A>T
CLNSRC ClinVar
CLNACC RCV000049586.1,


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