rs1801239
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common on affy axiom data |
| (T;T) | 0 |
| Make rs1801239(A;G) |
| Make rs1801239(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 16877053 |
| Gene | CUBN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801239 |
| dbSNP (classic) | rs1801239 |
| ClinGen | rs1801239 |
| ebi | rs1801239 |
| HLI | rs1801239 |
| Exac | rs1801239 |
| Gnomad | rs1801239 |
| Varsome | rs1801239 |
| LitVar | rs1801239 |
| Map | rs1801239 |
| PheGenI | rs1801239 |
| Biobank | rs1801239 |
| 1000 genomes | rs1801239 |
| hgdp | rs1801239 |
| ensembl | rs1801239 |
| geneview | rs1801239 |
| scholar | rs1801239 |
| rs1801239 | |
| pharmgkb | rs1801239 |
| gwascentral | rs1801239 |
| openSNP | rs1801239 |
| 23andMe | rs1801239 |
| SNPshot | rs1801239 |
| SNPdbe | rs1801239 |
| MSV3d | rs1801239 |
| GWAS Ctlg | rs1801239 |
| GMAF | 0.0528 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 21355061 |
| Trait | |
| Title | CUBN Is a Gene Locus for Albuminuria |
| Risk Allele | T |
| P-val | 1E-11 |
| Odds Ratio | 0.0835 [NR] unit decrease (CKDGen) |
[PMID 22574174
] CUBN as a Novel Locus for End-Stage Renal Disease: Insights from Renal Transplantation
[PMID 27197912
] Association Analysis of the Cubilin (CUBN) and Megalin (LRP2) Genes with ESRD in African Americans.
| ClinVar | |
|---|---|
| Risk | rs1801239(G;G) |
| Alt | rs1801239(G;G) |
| Reference | Rs1801239(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Megaloblastic anemia |
| Variation | info |
| Gene | CUBN |
| CLNDBN | Megaloblastic anemia |
| Reversed | 1 |
| HGVS | NC_000010.10:g.16919052T>C |
| CLNSRC | |
| CLNACC | RCV000389104.1, |
[PMID 30557881] Cubilin Single Nucleotide Polymorphism Variants are Associated with Macroangiopathy While a Matrix Metalloproteinase-9 Single Nucleotide Polymorphism Flip-Flop may Indicate Susceptibility of Diabetic Nephropathy in Type-2 Diabetic Patients.
