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rs386833636

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833636(C;C)
Make rs386833636(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092175
GenePPT1
is asnp
is mentioned by
dbSNPrs386833636
ebirs386833636
HLIrs386833636
Exacrs386833636
Varsomers386833636
Maprs386833636
PheGenIrs386833636
hapmaprs386833636
1000 genomesrs386833636
hgdprs386833636
ensemblrs386833636
gopubmedrs386833636
geneviewrs386833636
scholarrs386833636
googlers386833636
pharmgkbrs386833636
gwascentralrs386833636
openSNPrs386833636
23andMers386833636
23andMe allrs386833636
SNP Nexus

SNPshotrs386833636
SNPdbers386833636
MSV3drs386833636
GWAS Ctlgrs386833636
Max Magnitude0
ClinVar
Risk rs386833636(C;C)
Alt rs386833636(C;C)
Reference rs386833636(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.40557847A>G
CLNSRC ClinVar
CLNACC RCV000049595.1,


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