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rs386833666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833666(G;T)
Make rs386833666(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40076891
GenePPT1
is asnp
is mentioned by
dbSNPrs386833666
ebirs386833666
HLIrs386833666
Exacrs386833666
Varsomers386833666
Maprs386833666
PheGenIrs386833666
hapmaprs386833666
1000 genomesrs386833666
hgdprs386833666
ensemblrs386833666
gopubmedrs386833666
geneviewrs386833666
scholarrs386833666
googlers386833666
pharmgkbrs386833666
gwascentralrs386833666
openSNPrs386833666
23andMers386833666
23andMe allrs386833666
SNP Nexus

SNPshotrs386833666
SNPdbers386833666
MSV3drs386833666
GWAS Ctlgrs386833666
Max Magnitude0
ClinVar
Risk rs386833666(T;T)
Alt rs386833666(T;T)
Reference rs386833666(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.40542563C>A
CLNSRC ClinVar
CLNACC RCV000049626.1,


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