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rs386833840

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833840(-;-)
Make rs386833840(-;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position35907534
GeneTYROBP
is asnp
is mentioned by
dbSNPrs386833840
ebirs386833840
HLIrs386833840
Exacrs386833840
Varsomers386833840
Maprs386833840
PheGenIrs386833840
hapmaprs386833840
1000 genomesrs386833840
hgdprs386833840
ensemblrs386833840
gopubmedrs386833840
geneviewrs386833840
scholarrs386833840
googlers386833840
pharmgkbrs386833840
gwascentralrs386833840
openSNPrs386833840
23andMers386833840
23andMe allrs386833840
SNP Nexus

SNPshotrs386833840
SNPdbers386833840
MSV3drs386833840
GWAS Ctlgrs386833840
Max Magnitude0
ClinVar
Risk rs386833840(;)
Alt rs386833840(;)
Reference rs386833840(G;G)
Significance Other
Disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Variation info
Gene TYROBP
CLNDBN Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
Reversed 1
HGVS NC_000019.9:g.36398436delC
CLNSRC ClinVar
CLNACC RCV000049808.2,


[PMID 10888890] Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.


[PMID 12370476] Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.


[PMID 15883308] The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.


[PMID 17125796] A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease.


[PMID 22082900] A Japanese case with Nasu-Hakola disease of DAP12 gene mutation exhibiting precuneus hypoperfusion.