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rs386833652

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833652(C;C)
Make rs386833652(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40089408
GenePPT1
is asnp
is mentioned by
dbSNPrs386833652
ebirs386833652
HLIrs386833652
Exacrs386833652
Varsomers386833652
Maprs386833652
PheGenIrs386833652
hapmaprs386833652
1000 genomesrs386833652
hgdprs386833652
ensemblrs386833652
gopubmedrs386833652
geneviewrs386833652
scholarrs386833652
googlers386833652
pharmgkbrs386833652
gwascentralrs386833652
openSNPrs386833652
23andMers386833652
23andMe allrs386833652
SNP Nexus

SNPshotrs386833652
SNPdbers386833652
MSV3drs386833652
GWAS Ctlgrs386833652
Max Magnitude0
ClinVar
Risk rs386833652(C;C)
Alt rs386833652(C;C)
Reference rs386833652(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.40555080A>G
CLNSRC ClinVar
CLNACC RCV000049611.1,


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