Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833658

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833658(C;G)
Make rs386833658(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40080458
GenePPT1
is asnp
is mentioned by
dbSNPrs386833658
ebirs386833658
HLIrs386833658
Exacrs386833658
Varsomers386833658
Maprs386833658
PheGenIrs386833658
hapmaprs386833658
1000 genomesrs386833658
hgdprs386833658
ensemblrs386833658
gopubmedrs386833658
geneviewrs386833658
scholarrs386833658
googlers386833658
pharmgkbrs386833658
gwascentralrs386833658
openSNPrs386833658
23andMers386833658
23andMe allrs386833658
SNP Nexus

SNPshotrs386833658
SNPdbers386833658
MSV3drs386833658
GWAS Ctlgrs386833658
Max Magnitude0
ClinVar
Risk rs386833658(G;G)
Alt rs386833658(G;G)
Reference rs386833658(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.40546130G>C
CLNSRC ClinVar
CLNACC RCV000049618.1,


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