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rs386833639

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833639(A;C)
Make rs386833639(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092135
GenePPT1
is asnp
is mentioned by
dbSNPrs386833639
ebirs386833639
HLIrs386833639
Exacrs386833639
Varsomers386833639
Maprs386833639
PheGenIrs386833639
hapmaprs386833639
1000 genomesrs386833639
hgdprs386833639
ensemblrs386833639
gopubmedrs386833639
geneviewrs386833639
scholarrs386833639
googlers386833639
pharmgkbrs386833639
gwascentralrs386833639
openSNPrs386833639
23andMers386833639
23andMe allrs386833639
SNP Nexus

SNPshotrs386833639
SNPdbers386833639
MSV3drs386833639
GWAS Ctlgrs386833639
Max Magnitude0
ClinVar
Risk rs386833639(C;C)
Alt rs386833639(C;C)
Reference rs386833639(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.40557807T>G
CLNSRC ClinVar
CLNACC RCV000049598.1,


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