rs2240688
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2240688(A;C) |
| Make rs2240688(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 15968726 |
| Gene | PROM1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2240688 |
| dbSNP (classic) | rs2240688 |
| ClinGen | rs2240688 |
| ebi | rs2240688 |
| HLI | rs2240688 |
| Exac | rs2240688 |
| Gnomad | rs2240688 |
| Varsome | rs2240688 |
| LitVar | rs2240688 |
| Map | rs2240688 |
| PheGenI | rs2240688 |
| Biobank | rs2240688 |
| 1000 genomes | rs2240688 |
| hgdp | rs2240688 |
| ensembl | rs2240688 |
| geneview | rs2240688 |
| scholar | rs2240688 |
| rs2240688 | |
| pharmgkb | rs2240688 |
| gwascentral | rs2240688 |
| openSNP | rs2240688 |
| 23andMe | rs2240688 |
| SNPshot | rs2240688 |
| SNPdbe | rs2240688 |
| MSV3d | rs2240688 |
| GWAS Ctlg | rs2240688 |
| GMAF | 0.2369 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 23715500] A microRNA-135a/b binding polymorphism in CD133 confers decreased risk and favorable prognosis of lung cancer in Chinese by reducing CD133 expression
[PMID 24302553] Polymorphisms at the microRNA binding-site of the stem cell marker gene CD133 modify susceptibility to and survival of gastric cancer
[PMID 27130457] Polymorphisms of the Stem Cell Marker Gene CD133 and the Risk of Lung Cancer in Chinese Population.
| ClinVar | |
|---|---|
| Risk | rs2240688(C;C) |
| Alt | rs2240688(C;C) |
| Reference | Rs2240688(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Stargardt Disease Cone-Rod Dystrophy Retinal Macular Dystrophy Retinitis Pigmentosa |
| Variation | info |
| Gene | PROM1 |
| CLNDBN | Stargardt Disease, Dominant Cone-Rod Dystrophy, Dominant Retinal Macular Dystrophy Retinitis Pigmentosa, Recessive |
| Reversed | 1 |
| HGVS | NC_000004.11:g.15970349T>G |
| CLNSRC | |
| CLNACC | RCV000294834.1, RCV000348387.1, RCV000352014.1, RCV000386635.1, |
[PMID 28827262
] Polymorphisms of the stem cell marker gene CD133 are associated the clinical outcome in a cohort of Chinese non-small cell lung cancer patients.
[PMID 31450925] Gene Combination of CD44 rs187116, CD133 rs2240688, NF-κB1 rs28362491 and GSTM1 Deletion as a Potential Biomarker in Risk Prediction of Breast Cancer in Lower Northern Thailand.
