rs80338806
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (AT;AT) | 0 | common in clinvar |
| Make rs80338806(-;-) |
| Make rs80338806(-;AT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 2951104 |
| Gene | LPIN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338806 |
| dbSNP (classic) | rs80338806 |
| ClinGen | rs80338806 |
| ebi | rs80338806 |
| HLI | rs80338806 |
| Exac | rs80338806 |
| Gnomad | rs80338806 |
| Varsome | rs80338806 |
| LitVar | rs80338806 |
| Map | rs80338806 |
| PheGenI | rs80338806 |
| Biobank | rs80338806 |
| 1000 genomes | rs80338806 |
| hgdp | rs80338806 |
| ensembl | rs80338806 |
| geneview | rs80338806 |
| scholar | rs80338806 |
| rs80338806 | |
| pharmgkb | rs80338806 |
| gwascentral | rs80338806 |
| openSNP | rs80338806 |
| 23andMe | rs80338806 |
| SNPshot | rs80338806 |
| SNPdbe | rs80338806 |
| MSV3d | rs80338806 |
| GWAS Ctlg | rs80338806 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338806(-;-) |
| Alt | rs80338806(-;-) |
| Reference | Rs80338806(AT;AT) |
| Significance | Pathogenic |
| Disease | Majeed syndrome |
| Variation | info |
| Gene | LPIN2 |
| CLNDBN | Majeed syndrome |
| Reversed | 1 |
| HGVS | NC_000018.9:g.2951102_2951103delAT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005191.3, |
[PMID 11795677] The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review.
[PMID 15994876
] Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
