rs80338807
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs80338807(C;T) |
| Make rs80338807(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 2922173 |
| Gene | LPIN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338807 |
| dbSNP (classic) | rs80338807 |
| ClinGen | rs80338807 |
| ebi | rs80338807 |
| HLI | rs80338807 |
| Exac | rs80338807 |
| Gnomad | rs80338807 |
| Varsome | rs80338807 |
| LitVar | rs80338807 |
| Map | rs80338807 |
| PheGenI | rs80338807 |
| Biobank | rs80338807 |
| 1000 genomes | rs80338807 |
| hgdp | rs80338807 |
| ensembl | rs80338807 |
| geneview | rs80338807 |
| scholar | rs80338807 |
| rs80338807 | |
| pharmgkb | rs80338807 |
| gwascentral | rs80338807 |
| openSNP | rs80338807 |
| 23andMe | rs80338807 |
| SNPshot | rs80338807 |
| SNPdbe | rs80338807 |
| MSV3d | rs80338807 |
| GWAS Ctlg | rs80338807 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338807(T;T) |
| Alt | rs80338807(T;T) |
| Reference | Rs80338807(C;C) |
| Significance | Pathogenic |
| Disease | Majeed syndrome not provided |
| Variation | info |
| Gene | LPIN2 |
| CLNDBN | Majeed syndrome not provided |
| Reversed | 1 |
| HGVS | NC_000018.9:g.2922171G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005190.3, RCV000222509.1, |
[PMID 2809904] Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings.
[PMID 10969284] On mice and men: An autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia.
[PMID 15994876
] Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome).
