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rs386833630

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833630(A;G)
Make rs386833630(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092509
GenePPT1
is asnp
is mentioned by
dbSNPrs386833630
ebirs386833630
HLIrs386833630
Exacrs386833630
Varsomers386833630
Maprs386833630
PheGenIrs386833630
hapmaprs386833630
1000 genomesrs386833630
hgdprs386833630
ensemblrs386833630
gopubmedrs386833630
geneviewrs386833630
scholarrs386833630
googlers386833630
pharmgkbrs386833630
gwascentralrs386833630
openSNPrs386833630
23andMers386833630
23andMe allrs386833630
SNP Nexus

SNPshotrs386833630
SNPdbers386833630
MSV3drs386833630
GWAS Ctlgrs386833630
Max Magnitude0
ClinVar
Risk rs386833630(G;G)
Alt rs386833630(G;G)
Reference rs386833630(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40558181T>C
CLNSRC ClinVar
CLNACC RCV000049589.1,


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