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rs386833671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833671(C;C)
Make rs386833671(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40074068
GenePPT1
is asnp
is mentioned by
dbSNPrs386833671
ebirs386833671
HLIrs386833671
Exacrs386833671
Varsomers386833671
Maprs386833671
PheGenIrs386833671
hapmaprs386833671
1000 genomesrs386833671
hgdprs386833671
ensemblrs386833671
gopubmedrs386833671
geneviewrs386833671
scholarrs386833671
googlers386833671
pharmgkbrs386833671
gwascentralrs386833671
openSNPrs386833671
23andMers386833671
23andMe allrs386833671
SNP Nexus

SNPshotrs386833671
SNPdbers386833671
MSV3drs386833671
GWAS Ctlgrs386833671
Max Magnitude0
ClinVar
Risk rs386833671(C;C)
Alt rs386833671(C;C)
Reference rs386833671(T;T)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40539740A>G
CLNSRC ClinVar
CLNACC RCV000049631.1,


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