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rs386833642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833642(G;G)
Make rs386833642(G;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092082
GenePPT1
is asnp
is mentioned by
dbSNPrs386833642
ebirs386833642
HLIrs386833642
Exacrs386833642
Varsomers386833642
Maprs386833642
PheGenIrs386833642
hapmaprs386833642
1000 genomesrs386833642
hgdprs386833642
ensemblrs386833642
gopubmedrs386833642
geneviewrs386833642
scholarrs386833642
googlers386833642
pharmgkbrs386833642
gwascentralrs386833642
openSNPrs386833642
23andMers386833642
23andMe allrs386833642
SNP Nexus

SNPshotrs386833642
SNPdbers386833642
MSV3drs386833642
GWAS Ctlgrs386833642
Max Magnitude0
ClinVar
Risk rs386833642(G;G)
Alt rs386833642(G;G)
Reference rs386833642(T;T)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1 not provided
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1 not provided
Reversed 1
HGVS NC_000001.10:g.40557754A>C
CLNSRC ClinVar
CLNACC RCV000049601.1, RCV000188711.1,


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