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rs386833654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833654(C;T)
Make rs386833654(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40080480
GenePPT1
is asnp
is mentioned by
dbSNPrs386833654
ebirs386833654
HLIrs386833654
Exacrs386833654
Varsomers386833654
Maprs386833654
PheGenIrs386833654
hapmaprs386833654
1000 genomesrs386833654
hgdprs386833654
ensemblrs386833654
gopubmedrs386833654
geneviewrs386833654
scholarrs386833654
googlers386833654
pharmgkbrs386833654
gwascentralrs386833654
openSNPrs386833654
23andMers386833654
23andMe allrs386833654
SNP Nexus

SNPshotrs386833654
SNPdbers386833654
MSV3drs386833654
GWAS Ctlgrs386833654
Max Magnitude0
ClinVar
Risk rs386833654(T;T)
Alt rs386833654(T;T)
Reference rs386833654(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40546152G>A
CLNSRC ClinVar
CLNACC RCV000049614.1,


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