Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833646

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833646(C;T)
Make rs386833646(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40091349
GenePPT1
is asnp
is mentioned by
dbSNPrs386833646
ebirs386833646
HLIrs386833646
Exacrs386833646
Varsomers386833646
Maprs386833646
PheGenIrs386833646
hapmaprs386833646
1000 genomesrs386833646
hgdprs386833646
ensemblrs386833646
gopubmedrs386833646
geneviewrs386833646
scholarrs386833646
googlers386833646
pharmgkbrs386833646
gwascentralrs386833646
openSNPrs386833646
23andMers386833646
23andMe allrs386833646
SNP Nexus

SNPshotrs386833646
SNPdbers386833646
MSV3drs386833646
GWAS Ctlgrs386833646
Max Magnitude0
ClinVar
Risk rs386833646(T;T)
Alt rs386833646(T;T)
Reference rs386833646(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.40557021G>A
CLNSRC ClinVar
CLNACC RCV000049605.1,


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