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rs386833662

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833662(C;C)
Make rs386833662(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40078612
GenePPT1
is asnp
is mentioned by
dbSNPrs386833662
ebirs386833662
HLIrs386833662
Exacrs386833662
Varsomers386833662
Maprs386833662
PheGenIrs386833662
hapmaprs386833662
1000 genomesrs386833662
hgdprs386833662
ensemblrs386833662
gopubmedrs386833662
geneviewrs386833662
scholarrs386833662
googlers386833662
pharmgkbrs386833662
gwascentralrs386833662
openSNPrs386833662
23andMers386833662
23andMe allrs386833662
SNP Nexus

SNPshotrs386833662
SNPdbers386833662
MSV3drs386833662
GWAS Ctlgrs386833662
Max Magnitude0
ClinVar
Risk rs386833662(C;C)
Alt rs386833662(C;C)
Reference rs386833662(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.40544284A>G
CLNSRC ClinVar
CLNACC RCV000049622.1,


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