rs1050783
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1050783(A;A) |
| Make rs1050783(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 6145459 |
| Gene | F13A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1050783 |
| dbSNP (classic) | rs1050783 |
| ClinGen | rs1050783 |
| ebi | rs1050783 |
| HLI | rs1050783 |
| Exac | rs1050783 |
| Gnomad | rs1050783 |
| Varsome | rs1050783 |
| LitVar | rs1050783 |
| Map | rs1050783 |
| PheGenI | rs1050783 |
| Biobank | rs1050783 |
| 1000 genomes | rs1050783 |
| hgdp | rs1050783 |
| ensembl | rs1050783 |
| geneview | rs1050783 |
| scholar | rs1050783 |
| rs1050783 | |
| pharmgkb | rs1050783 |
| gwascentral | rs1050783 |
| openSNP | rs1050783 |
| 23andMe | rs1050783 |
| SNPshot | rs1050783 |
| SNPdbe | rs1050783 |
| MSV3d | rs1050783 |
| GWAS Ctlg | rs1050783 |
| GMAF | 0.1488 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 24159917
] Gastrointestinal stromal tumors: a case-only analysis of single nucleotide polymorphisms and somatic mutations
| ClinVar | |
|---|---|
| Risk | rs1050783(A;A) |
| Alt | rs1050783(A;A) |
| Reference | Rs1050783(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Factor xiii |
| Variation | info |
| Gene | F13A1 |
| CLNDBN | Factor xiii, a subunit, deficiency of |
| Reversed | 1 |
| HGVS | NC_000006.11:g.6145692C>T |
| CLNSRC | |
| CLNACC | RCV000288686.1, |
