rs111033629
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 5 | Carrier of an X-linked mutation for lymphoproliferative syndrome 1 |
| (T;T) | 8.8 | Lymphoproliferative syndrome 1 (predicted) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 124346645 |
| Gene | SH2D1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs111033629 |
| dbSNP (classic) | rs111033629 |
| ClinGen | rs111033629 |
| ebi | rs111033629 |
| HLI | rs111033629 |
| Exac | rs111033629 |
| Gnomad | rs111033629 |
| Varsome | rs111033629 |
| LitVar | rs111033629 |
| Map | rs111033629 |
| PheGenI | rs111033629 |
| Biobank | rs111033629 |
| 1000 genomes | rs111033629 |
| hgdp | rs111033629 |
| ensembl | rs111033629 |
| geneview | rs111033629 |
| scholar | rs111033629 |
| rs111033629 | |
| pharmgkb | rs111033629 |
| gwascentral | rs111033629 |
| openSNP | rs111033629 |
| 23andMe | rs111033629 |
| SNPshot | rs111033629 |
| SNPdbe | rs111033629 |
| MSV3d | rs111033629 |
| GWAS Ctlg | rs111033629 |
| Max Magnitude | 8.8 |
aka c.3G>T (p.Met1Ile)
considered pathogenic for X-linked Lymphoproliferative syndrome, type 1 in ClinVar
| ClinVar | |
|---|---|
| Risk | Rs111033629(T;T) |
| Alt | Rs111033629(T;T) |
| Reference | Rs111033629(G;G) |
| Significance | Pathogenic |
| Disease | Lymphoproliferative syndrome 1 |
| Variation | info |
| Gene | SH2D1A |
| CLNDBN | Lymphoproliferative syndrome 1, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.123480495G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000011655.4, |
