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rs386833657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833657(A;G)
Make rs386833657(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40080464
GenePPT1
is asnp
is mentioned by
dbSNPrs386833657
ebirs386833657
HLIrs386833657
Exacrs386833657
Varsomers386833657
Maprs386833657
PheGenIrs386833657
hapmaprs386833657
1000 genomesrs386833657
hgdprs386833657
ensemblrs386833657
gopubmedrs386833657
geneviewrs386833657
scholarrs386833657
googlers386833657
pharmgkbrs386833657
gwascentralrs386833657
openSNPrs386833657
23andMers386833657
23andMe allrs386833657
SNP Nexus

SNPshotrs386833657
SNPdbers386833657
MSV3drs386833657
GWAS Ctlgrs386833657
Max Magnitude0
ClinVar
Risk rs386833657(G;G)
Alt rs386833657(G;G)
Reference rs386833657(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40546136T>C
CLNSRC ClinVar
CLNACC RCV000049617.1,


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