rs386833840
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386833840(-;-) |
Make rs386833840(-;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 35907534 |
Gene | TYROBP |
is a | snp |
is | mentioned by |
dbSNP | rs386833840 |
dbSNP (classic) | rs386833840 |
ClinGen | rs386833840 |
ebi | rs386833840 |
HLI | rs386833840 |
Exac | rs386833840 |
Gnomad | rs386833840 |
Varsome | rs386833840 |
LitVar | rs386833840 |
Map | rs386833840 |
PheGenI | rs386833840 |
Biobank | rs386833840 |
1000 genomes | rs386833840 |
hgdp | rs386833840 |
ensembl | rs386833840 |
geneview | rs386833840 |
scholar | rs386833840 |
rs386833840 | |
pharmgkb | rs386833840 |
gwascentral | rs386833840 |
openSNP | rs386833840 |
23andMe | rs386833840 |
SNPshot | rs386833840 |
SNPdbe | rs386833840 |
MSV3d | rs386833840 |
GWAS Ctlg | rs386833840 |
Max Magnitude | 0 |
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.