rs2234583
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2234583(C;T) |
Make rs2234583(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 32434752 |
Gene | WT1, WT1-AS |
is a | snp |
is | mentioned by |
dbSNP | rs2234583 |
dbSNP (classic) | rs2234583 |
ClinGen | rs2234583 |
ebi | rs2234583 |
HLI | rs2234583 |
Exac | rs2234583 |
Gnomad | rs2234583 |
Varsome | rs2234583 |
LitVar | rs2234583 |
Map | rs2234583 |
PheGenI | rs2234583 |
Biobank | rs2234583 |
1000 genomes | rs2234583 |
hgdp | rs2234583 |
ensembl | rs2234583 |
geneview | rs2234583 |
scholar | rs2234583 |
rs2234583 | |
pharmgkb | rs2234583 |
gwascentral | rs2234583 |
openSNP | rs2234583 |
23andMe | rs2234583 |
SNPshot | rs2234583 |
SNPdbe | rs2234583 |
MSV3d | rs2234583 |
GWAS Ctlg | rs2234583 |
GMAF | 0.1157 |
Max Magnitude | 0 |
[PMID 23484026] Single Nucleotide Polymorphisms in the Wilms' Tumour Gene 1 in Clear Cell Renal Cell Carcinoma
ClinVar | |
---|---|
Risk | rs2234583(G;G) rs2234583(T;T) |
Alt | rs2234583(G;G) rs2234583(T;T) |
Reference | Rs2234583(C;C) |
Significance | Probable-non-pathogenic |
Disease | not specified Wilms tumor Wilms Tumor Diffuse mesangial sclerosis Meacham syndrome Drash syndrome Frasier syndrome Wilms tumor 1 |
Variation | info |
Gene | WT1 WT1-AS |
CLNDBN | not specified Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome Wilms Tumor Diffuse mesangial sclerosis Meacham syndrome Drash syndrome Frasier syndrome Wilms tumor 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.32456298G>A; NC_000011.9:g.32456298G>C |
CLNSRC | |
CLNACC | RCV000247609.3, RCV000293694.1, RCV000348640.1, RCV000393785.1, RCV000403336.1, RCV000475587.1, |