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rs386833643

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833643(G;G)
Make rs386833643(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40091402
GenePPT1
is asnp
is mentioned by
dbSNPrs386833643
ebirs386833643
HLIrs386833643
Exacrs386833643
Varsomers386833643
Maprs386833643
PheGenIrs386833643
hapmaprs386833643
1000 genomesrs386833643
hgdprs386833643
ensemblrs386833643
gopubmedrs386833643
geneviewrs386833643
scholarrs386833643
googlers386833643
pharmgkbrs386833643
gwascentralrs386833643
openSNPrs386833643
23andMers386833643
23andMe allrs386833643
SNP Nexus

SNPshotrs386833643
SNPdbers386833643
MSV3drs386833643
GWAS Ctlgrs386833643
Max Magnitude0
ClinVar
Risk rs386833643(G;G)
Alt rs386833643(G;G)
Reference rs386833643(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.40557074A>C
CLNSRC ClinVar
CLNACC RCV000049602.1,


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