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rs386833626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833626(A;A)
Make rs386833626(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40097125
GenePPT1
is asnp
is mentioned by
dbSNPrs386833626
ebirs386833626
HLIrs386833626
Exacrs386833626
Varsomers386833626
Maprs386833626
PheGenIrs386833626
hapmaprs386833626
1000 genomesrs386833626
hgdprs386833626
ensemblrs386833626
gopubmedrs386833626
geneviewrs386833626
scholarrs386833626
googlers386833626
pharmgkbrs386833626
gwascentralrs386833626
openSNPrs386833626
23andMers386833626
23andMe allrs386833626
SNP Nexus

SNPshotrs386833626
SNPdbers386833626
MSV3drs386833626
GWAS Ctlgrs386833626
Max Magnitude0
ClinVar
Risk rs386833626(A,T;A,T)
Alt rs386833626(A,T;A,T)
Reference rs386833626(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.40562797C>A; NC_000001.10:g.40562797C>T
CLNSRC ClinVar
CLNACC RCV000049554.1, RCV000049553.1,


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