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rs386833647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833647(A;A)
Make rs386833647(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40089491
GenePPT1
is asnp
is mentioned by
dbSNPrs386833647
ebirs386833647
HLIrs386833647
Exacrs386833647
Varsomers386833647
Maprs386833647
PheGenIrs386833647
hapmaprs386833647
1000 genomesrs386833647
hgdprs386833647
ensemblrs386833647
gopubmedrs386833647
geneviewrs386833647
scholarrs386833647
googlers386833647
pharmgkbrs386833647
gwascentralrs386833647
openSNPrs386833647
23andMers386833647
23andMe allrs386833647
SNP Nexus

SNPshotrs386833647
SNPdbers386833647
MSV3drs386833647
GWAS Ctlgrs386833647
Max Magnitude0
ClinVar
Risk rs386833647(A;A)
Alt rs386833647(A;A)
Reference rs386833647(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.40555163C>T
CLNSRC ClinVar
CLNACC RCV000049606.1,


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