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rs386833634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833634(-;-)
Make rs386833634(-;A)
Make rs386833634(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position40092462
GenePPT1
is asnp
is mentioned by
dbSNPrs386833634
ebirs386833634
HLIrs386833634
Exacrs386833634
Varsomers386833634
Maprs386833634
PheGenIrs386833634
hapmaprs386833634
1000 genomesrs386833634
hgdprs386833634
ensemblrs386833634
gopubmedrs386833634
geneviewrs386833634
scholarrs386833634
googlers386833634
pharmgkbrs386833634
gwascentralrs386833634
openSNPrs386833634
23andMers386833634
23andMe allrs386833634
SNP Nexus

SNPshotrs386833634
SNPdbers386833634
MSV3drs386833634
GWAS Ctlgrs386833634
Max Magnitude0
ClinVar
Risk rs386833634(A;A)
Alt rs386833634(A;A)
Reference rs386833634(;)
Significance Other
Disease Ceroid lipofuscinosis neuronal 1
Variation info
Gene PPT1
CLNDBN Ceroid lipofuscinosis neuronal 1
Reversed 1
HGVS NC_000001.10:g.40558135dupT
CLNSRC ClinVar
CLNACC RCV000049593.3,


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