rs2114592
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2114592(C;T) |
| Make rs2114592(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 230210491 |
| Gene | SP110, SP140 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2114592 |
| dbSNP (classic) | rs2114592 |
| ClinGen | rs2114592 |
| ebi | rs2114592 |
| HLI | rs2114592 |
| Exac | rs2114592 |
| Gnomad | rs2114592 |
| Varsome | rs2114592 |
| LitVar | rs2114592 |
| Map | rs2114592 |
| PheGenI | rs2114592 |
| Biobank | rs2114592 |
| 1000 genomes | rs2114592 |
| hgdp | rs2114592 |
| ensembl | rs2114592 |
| geneview | rs2114592 |
| scholar | rs2114592 |
| rs2114592 | |
| pharmgkb | rs2114592 |
| gwascentral | rs2114592 |
| openSNP | rs2114592 |
| 23andMe | rs2114592 |
| SNPshot | rs2114592 |
| SNPdbe | rs2114592 |
| MSV3d | rs2114592 |
| GWAS Ctlg | rs2114592 |
| GMAF | 0.1529 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 16803959
] Variants in the SP110 gene are associated with genetic susceptibility to tuberculosis in West Africa.
[PMID 20196868] Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.
[PMID 22522001] Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians
| ClinVar | |
|---|---|
| Risk | rs2114592(T;T) |
| Alt | rs2114592(T;T) |
| Reference | Rs2114592(C;C) |
| Significance | Other |
| Disease | Mycobacterium tuberculosis |
| Variation | info |
| Gene | SP110 LOC101928789 |
| CLNDBN | Mycobacterium tuberculosis, susceptibility to |
| Reversed | 1 |
| HGVS | NC_000002.11:g.231075206G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005878.5, |
