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rs386833651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833651(A;A)
Make rs386833651(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40089409
GenePPT1
is asnp
is mentioned by
dbSNPrs386833651
ebirs386833651
HLIrs386833651
Exacrs386833651
Varsomers386833651
Maprs386833651
PheGenIrs386833651
hapmaprs386833651
1000 genomesrs386833651
hgdprs386833651
ensemblrs386833651
gopubmedrs386833651
geneviewrs386833651
scholarrs386833651
googlers386833651
pharmgkbrs386833651
gwascentralrs386833651
openSNPrs386833651
23andMers386833651
23andMe allrs386833651
SNP Nexus

SNPshotrs386833651
SNPdbers386833651
MSV3drs386833651
GWAS Ctlgrs386833651
Max Magnitude0
ClinVar
Risk rs386833651(A;A)
Alt rs386833651(A;A)
Reference rs386833651(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.40555081C>T
CLNSRC ClinVar
CLNACC RCV000049610.1,


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