rs318240736
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CT;CT) | 0 | common in clinvar |
| Make rs318240736(-;-) |
| Make rs318240736(-;CT) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 2931395 |
| Gene | LPIN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs318240736 |
| dbSNP (classic) | rs318240736 |
| ClinGen | rs318240736 |
| ebi | rs318240736 |
| HLI | rs318240736 |
| Exac | rs318240736 |
| Gnomad | rs318240736 |
| Varsome | rs318240736 |
| LitVar | rs318240736 |
| Map | rs318240736 |
| PheGenI | rs318240736 |
| Biobank | rs318240736 |
| 1000 genomes | rs318240736 |
| hgdp | rs318240736 |
| ensembl | rs318240736 |
| geneview | rs318240736 |
| scholar | rs318240736 |
| rs318240736 | |
| pharmgkb | rs318240736 |
| gwascentral | rs318240736 |
| openSNP | rs318240736 |
| 23andMe | rs318240736 |
| SNPshot | rs318240736 |
| SNPdbe | rs318240736 |
| MSV3d | rs318240736 |
| GWAS Ctlg | rs318240736 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs318240736(-;-) |
| Alt | rs318240736(-;-) |
| Reference | Rs318240736(CT;CT) |
| Significance | Pathogenic |
| Disease | Majeed syndrome |
| Variation | info |
| Gene | LPIN2 |
| CLNDBN | Majeed syndrome |
| Reversed | 1 |
| HGVS | NC_000018.9:g.2931393_2931394delAG |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000034150.2, |
[PMID 23087183
] Efficacy of anti-IL-1 treatment in Majeed syndrome.
