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rs386833655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833655(A;A)
Make rs386833655(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40080474
GenePPT1
is asnp
is mentioned by
dbSNPrs386833655
ebirs386833655
HLIrs386833655
Exacrs386833655
Varsomers386833655
Maprs386833655
PheGenIrs386833655
hapmaprs386833655
1000 genomesrs386833655
hgdprs386833655
ensemblrs386833655
gopubmedrs386833655
geneviewrs386833655
scholarrs386833655
googlers386833655
pharmgkbrs386833655
gwascentralrs386833655
openSNPrs386833655
23andMers386833655
23andMe allrs386833655
SNP Nexus

SNPshotrs386833655
SNPdbers386833655
MSV3drs386833655
GWAS Ctlgrs386833655
Max Magnitude0
ClinVar
Risk rs386833655(A;A)
Alt rs386833655(A;A)
Reference rs386833655(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.40546146C>T
CLNSRC ClinVar
CLNACC RCV000049615.1,


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