rs5030315
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs5030315(A;G) |
| Make rs5030315(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 32388970 |
| Gene | WT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5030315 |
| dbSNP (classic) | rs5030315 |
| ClinGen | rs5030315 |
| ebi | rs5030315 |
| HLI | rs5030315 |
| Exac | rs5030315 |
| Gnomad | rs5030315 |
| Varsome | rs5030315 |
| LitVar | rs5030315 |
| Map | rs5030315 |
| PheGenI | rs5030315 |
| Biobank | rs5030315 |
| 1000 genomes | rs5030315 |
| hgdp | rs5030315 |
| ensembl | rs5030315 |
| geneview | rs5030315 |
| scholar | rs5030315 |
| rs5030315 | |
| pharmgkb | rs5030315 |
| gwascentral | rs5030315 |
| openSNP | rs5030315 |
| 23andMe | rs5030315 |
| SNPshot | rs5030315 |
| SNPdbe | rs5030315 |
| MSV3d | rs5030315 |
| GWAS Ctlg | rs5030315 |
| GMAF | 0.1295 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23484026
] Single Nucleotide Polymorphisms in the Wilms' Tumour Gene 1 in Clear Cell Renal Cell Carcinoma
| ClinVar | |
|---|---|
| Risk | rs5030315(G;G) |
| Alt | rs5030315(G;G) |
| Reference | Rs5030315(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | Wilms tumor Diffuse mesangial sclerosis Wilms Tumor Meacham syndrome |
| Variation | info |
| Gene | WT1 |
| CLNDBN | Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Diffuse mesangial sclerosis Wilms Tumor Meacham syndrome |
| Reversed | 1 |
| HGVS | NC_000011.9:g.32410516T>C |
| CLNSRC | |
| CLNACC | RCV000280390.1, RCV000338025.1, RCV000348416.1, RCV000386664.1, |
