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rs386833656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833656(A;A)
Make rs386833656(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40080466
GenePPT1
is asnp
is mentioned by
dbSNPrs386833656
ebirs386833656
HLIrs386833656
Exacrs386833656
Varsomers386833656
Maprs386833656
PheGenIrs386833656
hapmaprs386833656
1000 genomesrs386833656
hgdprs386833656
ensemblrs386833656
gopubmedrs386833656
geneviewrs386833656
scholarrs386833656
googlers386833656
pharmgkbrs386833656
gwascentralrs386833656
openSNPrs386833656
23andMers386833656
23andMe allrs386833656
SNP Nexus

SNPshotrs386833656
SNPdbers386833656
MSV3drs386833656
GWAS Ctlgrs386833656
Max Magnitude0
ClinVar
Risk rs386833656(A;A)
Alt rs386833656(A;A)
Reference rs386833656(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.40546138C>T
CLNSRC ClinVar
CLNACC RCV000049616.1,


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