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rs386833650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833650(C;G)
Make rs386833650(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40089417
GenePPT1
is asnp
is mentioned by
dbSNPrs386833650
ebirs386833650
HLIrs386833650
Exacrs386833650
Varsomers386833650
Maprs386833650
PheGenIrs386833650
hapmaprs386833650
1000 genomesrs386833650
hgdprs386833650
ensemblrs386833650
gopubmedrs386833650
geneviewrs386833650
scholarrs386833650
googlers386833650
pharmgkbrs386833650
gwascentralrs386833650
openSNPrs386833650
23andMers386833650
23andMe allrs386833650
SNP Nexus

SNPshotrs386833650
SNPdbers386833650
MSV3drs386833650
GWAS Ctlgrs386833650
Max Magnitude0
ClinVar
Risk rs386833650(G;G)
Alt rs386833650(G;G)
Reference rs386833650(C;C)
Significance Pathogenic
Disease Ceroid lipofuscinosis neuronal 1 not provided
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1 not provided
Reversed 1
HGVS NC_000001.10:g.40555089G>C
CLNSRC ClinVar
CLNACC RCV000049609.1, RCV000188719.1,


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