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rs386833661

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833661(C;C)
Make rs386833661(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40078621
GenePPT1
is asnp
is mentioned by
dbSNPrs386833661
ebirs386833661
HLIrs386833661
Exacrs386833661
Varsomers386833661
Maprs386833661
PheGenIrs386833661
hapmaprs386833661
1000 genomesrs386833661
hgdprs386833661
ensemblrs386833661
gopubmedrs386833661
geneviewrs386833661
scholarrs386833661
googlers386833661
pharmgkbrs386833661
gwascentralrs386833661
openSNPrs386833661
23andMers386833661
23andMe allrs386833661
SNP Nexus

SNPshotrs386833661
SNPdbers386833661
MSV3drs386833661
GWAS Ctlgrs386833661
Max Magnitude0
ClinVar
Risk rs386833661(C;C)
Alt rs386833661(C;C)
Reference rs386833661(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.40544293A>G
CLNSRC ClinVar
CLNACC RCV000049621.1,


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