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rs386833670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833670(A;A)
Make rs386833670(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40074094
GenePPT1
is asnp
is mentioned by
dbSNPrs386833670
ebirs386833670
HLIrs386833670
Exacrs386833670
Varsomers386833670
Maprs386833670
PheGenIrs386833670
hapmaprs386833670
1000 genomesrs386833670
hgdprs386833670
ensemblrs386833670
gopubmedrs386833670
geneviewrs386833670
scholarrs386833670
googlers386833670
pharmgkbrs386833670
gwascentralrs386833670
openSNPrs386833670
23andMers386833670
23andMe allrs386833670
SNP Nexus

SNPshotrs386833670
SNPdbers386833670
MSV3drs386833670
GWAS Ctlgrs386833670
Max Magnitude0
ClinVar
Risk rs386833670(A;A)
Alt rs386833670(A;A)
Reference rs386833670(G;G)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40539766C>T
CLNSRC ClinVar
CLNACC RCV000049630.1,


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