rs386834142
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GGA;GGA) | 0 | common in clinvar |
Make rs386834142(-;-) |
Make rs386834142(-;AGG) |
Make rs386834142(AGG;AGG) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 41163038 |
Gene | LOC105375056, TREM2 |
is a | snp |
is | mentioned by |
dbSNP | rs386834142 |
dbSNP (classic) | rs386834142 |
ClinGen | rs386834142 |
ebi | rs386834142 |
HLI | rs386834142 |
Exac | rs386834142 |
Gnomad | rs386834142 |
Varsome | rs386834142 |
LitVar | rs386834142 |
Map | rs386834142 |
PheGenI | rs386834142 |
Biobank | rs386834142 |
1000 genomes | rs386834142 |
hgdp | rs386834142 |
ensembl | rs386834142 |
geneview | rs386834142 |
scholar | rs386834142 |
rs386834142 | |
pharmgkb | rs386834142 |
gwascentral | rs386834142 |
openSNP | rs386834142 |
23andMe | rs386834142 |
SNPshot | rs386834142 |
SNPdbe | rs386834142 |
MSV3d | rs386834142 |
GWAS Ctlg | rs386834142 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386834142(-;-) |
Alt | rs386834142(-;-) |
Reference | Rs386834142(GGA;GGA) |
Significance | Other |
Disease | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Variation | info |
Gene | TREM2 |
CLNDBN | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Reversed | 1 |
HGVS | NC_000006.11:g.41130776_41130778delCCT |
CLNSRC | ClinVar |
CLNACC | RCV000050136.2, |
[PMID 18546367] Mutations in TREM2 lead to pure early-onset dementia without bone cysts.