rs1135791
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs1135791(C;C) |
| Make rs1135791(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 230177560 |
| Gene | SP110 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1135791 |
| dbSNP (classic) | rs1135791 |
| ClinGen | rs1135791 |
| ebi | rs1135791 |
| HLI | rs1135791 |
| Exac | rs1135791 |
| Gnomad | rs1135791 |
| Varsome | rs1135791 |
| LitVar | rs1135791 |
| Map | rs1135791 |
| PheGenI | rs1135791 |
| Biobank | rs1135791 |
| 1000 genomes | rs1135791 |
| hgdp | rs1135791 |
| ensembl | rs1135791 |
| geneview | rs1135791 |
| scholar | rs1135791 |
| rs1135791 | |
| pharmgkb | rs1135791 |
| gwascentral | rs1135791 |
| openSNP | rs1135791 |
| 23andMe | rs1135791 |
| SNPshot | rs1135791 |
| SNPdbe | rs1135791 |
| MSV3d | rs1135791 |
| GWAS Ctlg | rs1135791 |
| GMAF | 0.3375 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21033425] [Study on relation between Sp110 gene polymorphism and tuberculosis genetic susceptibility of Chongqing Han People]
[PMID 16803959
] Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
[PMID 22691368] SP110 gene polymorphisms and tuberculosis susceptibility: A systematic review and meta-analysis based on 10 624 subjects.
[PMID 27873510] Certain Polymorphisms in SP110 Gene Confer Susceptibility to Tuberculosis: A Comprehensive Review and Updated Meta-Analysis.
| ClinVar | |
|---|---|
| Risk | rs1135791(C;C) |
| Alt | rs1135791(C;C) |
| Reference | Rs1135791(T;T) |
| Significance | Non-pathogenic |
| Disease | Hepatic venoocclusive disease with immunodeficiency not specified |
| Variation | info |
| Gene | SP110 |
| CLNDBN | Hepatic venoocclusive disease with immunodeficiency not specified |
| Reversed | 1 |
| HGVS | NC_000002.11:g.231042276A>G |
| CLNSRC | |
| CLNACC | RCV000362881.1, RCV000455391.1, |
