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rs386833669

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833669(C;C)
Make rs386833669(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40074096
GenePPT1
is asnp
is mentioned by
dbSNPrs386833669
ebirs386833669
HLIrs386833669
Exacrs386833669
Varsomers386833669
Maprs386833669
PheGenIrs386833669
hapmaprs386833669
1000 genomesrs386833669
hgdprs386833669
ensemblrs386833669
gopubmedrs386833669
geneviewrs386833669
scholarrs386833669
googlers386833669
pharmgkbrs386833669
gwascentralrs386833669
openSNPrs386833669
23andMers386833669
23andMe allrs386833669
SNP Nexus

SNPshotrs386833669
SNPdbers386833669
MSV3drs386833669
GWAS Ctlgrs386833669
Max Magnitude0
ClinVar
Risk rs386833669(C;C)
Alt rs386833669(C;C)
Reference rs386833669(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.40539768A>G
CLNSRC ClinVar
CLNACC RCV000049629.1,


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