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rs386833648

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833648(A;A)
Make rs386833648(A;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position40089490
GenePPT1
is asnp
is mentioned by
dbSNPrs386833648
ebirs386833648
HLIrs386833648
Exacrs386833648
Varsomers386833648
Maprs386833648
PheGenIrs386833648
hapmaprs386833648
1000 genomesrs386833648
hgdprs386833648
ensemblrs386833648
gopubmedrs386833648
geneviewrs386833648
scholarrs386833648
googlers386833648
pharmgkbrs386833648
gwascentralrs386833648
openSNPrs386833648
23andMers386833648
23andMe allrs386833648
SNP Nexus

SNPshotrs386833648
SNPdbers386833648
MSV3drs386833648
GWAS Ctlgrs386833648
Max Magnitude0
ClinVar
Risk rs386833648(A;A)
Alt rs386833648(A;A)
Reference rs386833648(C;C)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40555162G>T
CLNSRC ClinVar
CLNACC RCV000049607.1,


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