rs386834144
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs386834144(C;C) |
| Make rs386834144(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 41159790 |
| Gene | LOC105375056, TREM2, TREML1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386834144 |
| dbSNP (classic) | rs386834144 |
| ClinGen | rs386834144 |
| ebi | rs386834144 |
| HLI | rs386834144 |
| Exac | rs386834144 |
| Gnomad | rs386834144 |
| Varsome | rs386834144 |
| LitVar | rs386834144 |
| Map | rs386834144 |
| PheGenI | rs386834144 |
| Biobank | rs386834144 |
| 1000 genomes | rs386834144 |
| hgdp | rs386834144 |
| ensembl | rs386834144 |
| geneview | rs386834144 |
| scholar | rs386834144 |
| rs386834144 | |
| pharmgkb | rs386834144 |
| gwascentral | rs386834144 |
| openSNP | rs386834144 |
| 23andMe | rs386834144 |
| SNPshot | rs386834144 |
| SNPdbe | rs386834144 |
| MSV3d | rs386834144 |
| GWAS Ctlg | rs386834144 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386834144(C;C) |
| Alt | rs386834144(C;C) |
| Reference | Rs386834144(T;T) |
| Significance | Probable-Pathogenic |
| 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.41127528A>G |
| CLNSRC | ClinVar |
| CLNACC | RCV000050138.1, |
[PMID 12080485
] Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.
[PMID 21834902] Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family.
