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rs386833665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833665(C;C)
Make rs386833665(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40076901
GenePPT1
is asnp
is mentioned by
dbSNPrs386833665
ebirs386833665
HLIrs386833665
Exacrs386833665
Varsomers386833665
Maprs386833665
PheGenIrs386833665
hapmaprs386833665
1000 genomesrs386833665
hgdprs386833665
ensemblrs386833665
gopubmedrs386833665
geneviewrs386833665
scholarrs386833665
googlers386833665
pharmgkbrs386833665
gwascentralrs386833665
openSNPrs386833665
23andMers386833665
23andMe allrs386833665
SNP Nexus

SNPshotrs386833665
SNPdbers386833665
MSV3drs386833665
GWAS Ctlgrs386833665
Max Magnitude0
ClinVar
Risk rs386833665(C;C)
Alt rs386833665(C;C)
Reference rs386833665(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.40542573A>G
CLNSRC ClinVar
CLNACC RCV000049625.1,


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