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rs386833631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833631(A;A)
Make rs386833631(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092507
GenePPT1
is asnp
is mentioned by
dbSNPrs386833631
ebirs386833631
HLIrs386833631
Exacrs386833631
Varsomers386833631
Maprs386833631
PheGenIrs386833631
hapmaprs386833631
1000 genomesrs386833631
hgdprs386833631
ensemblrs386833631
gopubmedrs386833631
geneviewrs386833631
scholarrs386833631
googlers386833631
pharmgkbrs386833631
gwascentralrs386833631
openSNPrs386833631
23andMers386833631
23andMe allrs386833631
SNP Nexus

SNPshotrs386833631
SNPdbers386833631
MSV3drs386833631
GWAS Ctlgrs386833631
Max Magnitude0
ClinVar
Risk rs386833631(A;A)
Alt rs386833631(A;A)
Reference rs386833631(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.40558179C>T
CLNSRC ClinVar
CLNACC RCV000049590.2,


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