rs28939079
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs28939079(A;G) |
| Make rs28939079(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 41159873 |
| Gene | LOC105375056, TREM2, TREML1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28939079 |
| dbSNP (classic) | rs28939079 |
| ClinGen | rs28939079 |
| ebi | rs28939079 |
| HLI | rs28939079 |
| Exac | rs28939079 |
| Gnomad | rs28939079 |
| Varsome | rs28939079 |
| LitVar | rs28939079 |
| Map | rs28939079 |
| PheGenI | rs28939079 |
| Biobank | rs28939079 |
| 1000 genomes | rs28939079 |
| hgdp | rs28939079 |
| ensembl | rs28939079 |
| geneview | rs28939079 |
| scholar | rs28939079 |
| rs28939079 | |
| pharmgkb | rs28939079 |
| gwascentral | rs28939079 |
| openSNP | rs28939079 |
| 23andMe | rs28939079 |
| SNPshot | rs28939079 |
| SNPdbe | rs28939079 |
| MSV3d | rs28939079 |
| GWAS Ctlg | rs28939079 |
| Max Magnitude | 0 |
| OMIM | 605086 |
| Desc | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY |
| Variant | 0003 |
| Related | also |
| ClinVar | |
|---|---|
| Risk | rs28939079(G;G) |
| Alt | rs28939079(G;G) |
| Reference | Rs28939079(A;A) |
| Significance | 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.41127611T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005525.2, |
