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rs386833645

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833645(A;A)
Make rs386833645(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40097236
GenePPT1
is asnp
is mentioned by
dbSNPrs386833645
ebirs386833645
HLIrs386833645
Exacrs386833645
Varsomers386833645
Maprs386833645
PheGenIrs386833645
hapmaprs386833645
1000 genomesrs386833645
hgdprs386833645
ensemblrs386833645
gopubmedrs386833645
geneviewrs386833645
scholarrs386833645
googlers386833645
pharmgkbrs386833645
gwascentralrs386833645
openSNPrs386833645
23andMers386833645
23andMe allrs386833645
SNP Nexus

SNPshotrs386833645
SNPdbers386833645
MSV3drs386833645
GWAS Ctlgrs386833645
Max Magnitude0
ClinVar
Risk rs386833645(A;A)
Alt rs386833645(A;A)
Reference rs386833645(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.40562908C>T
CLNSRC ClinVar
CLNACC RCV000049604.2,


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