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rs386833663

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833663(G;G)
Make rs386833663(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40078603
GenePPT1
is asnp
is mentioned by
dbSNPrs386833663
ebirs386833663
HLIrs386833663
Exacrs386833663
Varsomers386833663
Maprs386833663
PheGenIrs386833663
hapmaprs386833663
1000 genomesrs386833663
hgdprs386833663
ensemblrs386833663
gopubmedrs386833663
geneviewrs386833663
scholarrs386833663
googlers386833663
pharmgkbrs386833663
gwascentralrs386833663
openSNPrs386833663
23andMers386833663
23andMe allrs386833663
SNP Nexus

SNPshotrs386833663
SNPdbers386833663
MSV3drs386833663
GWAS Ctlgrs386833663
Max Magnitude0
ClinVar
Risk rs386833663(G;G)
Alt rs386833663(G;G)
Reference rs386833663(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.40544275A>C
CLNSRC ClinVar
CLNACC RCV000049623.1,


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