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, |