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rs386833641

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833641(A;G)
Make rs386833641(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092097
GenePPT1
is asnp
is mentioned by
dbSNPrs386833641
ebirs386833641
HLIrs386833641
Exacrs386833641
Varsomers386833641
Maprs386833641
PheGenIrs386833641
hapmaprs386833641
1000 genomesrs386833641
hgdprs386833641
ensemblrs386833641
gopubmedrs386833641
geneviewrs386833641
scholarrs386833641
googlers386833641
pharmgkbrs386833641
gwascentralrs386833641
openSNPrs386833641
23andMers386833641
23andMe allrs386833641
SNP Nexus

SNPshotrs386833641
SNPdbers386833641
MSV3drs386833641
GWAS Ctlgrs386833641
Max Magnitude0
ClinVar
Risk rs386833641(G,T;G,T)
Alt rs386833641(G,T;G,T)
Reference rs386833641(A;A)
Significance Probable-Pathogenic
Disease Ceroid lipofuscinosis neuronal 1 not specified
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1 not specified
Reversed 1
HGVS NC_000001.10:g.40557769T>A; NC_000001.10:g.40557769T>C
CLNSRC ClinVar
CLNACC RCV000049600.1, RCV000188701.1,


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