Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833640(A;A)
Make rs386833640(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092120
GenePPT1
is asnp
is mentioned by
dbSNPrs386833640
ebirs386833640
HLIrs386833640
Exacrs386833640
Varsomers386833640
Maprs386833640
PheGenIrs386833640
hapmaprs386833640
1000 genomesrs386833640
hgdprs386833640
ensemblrs386833640
gopubmedrs386833640
geneviewrs386833640
scholarrs386833640
googlers386833640
pharmgkbrs386833640
gwascentralrs386833640
openSNPrs386833640
23andMers386833640
23andMe allrs386833640
SNP Nexus

SNPshotrs386833640
SNPdbers386833640
MSV3drs386833640
GWAS Ctlgrs386833640
Max Magnitude0
ClinVar
Risk rs386833640(A;A)
Alt rs386833640(A;A)
Reference rs386833640(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.40557792C>T
CLNSRC ClinVar
CLNACC RCV000049599.1,


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