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rs386833649

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833649(C;T)
Make rs386833649(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40089456
GenePPT1
is asnp
is mentioned by
dbSNPrs386833649
ebirs386833649
HLIrs386833649
Exacrs386833649
Varsomers386833649
Maprs386833649
PheGenIrs386833649
hapmaprs386833649
1000 genomesrs386833649
hgdprs386833649
ensemblrs386833649
gopubmedrs386833649
geneviewrs386833649
scholarrs386833649
googlers386833649
pharmgkbrs386833649
gwascentralrs386833649
openSNPrs386833649
23andMers386833649
23andMe allrs386833649
SNP Nexus

SNPshotrs386833649
SNPdbers386833649
MSV3drs386833649
GWAS Ctlgrs386833649
Max Magnitude0
ClinVar
Risk rs386833649(T;T)
Alt rs386833649(T;T)
Reference rs386833649(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.40555128G>A
CLNSRC ClinVar
CLNACC RCV000049608.2,


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