rs1060501253
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;C) | 7.5 | Wilms tumor susceptibility (predicted) |
(C;C) | 0 | common in clinvar |
Make rs1060501253(-;-) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 11 |
Position | 32428031 |
Gene | WT1 |
is a | snp |
is | mentioned by |
dbSNP | rs1060501253 |
dbSNP (classic) | rs1060501253 |
ClinGen | rs1060501253 |
ebi | rs1060501253 |
HLI | rs1060501253 |
Exac | rs1060501253 |
Gnomad | rs1060501253 |
Varsome | rs1060501253 |
LitVar | rs1060501253 |
Map | rs1060501253 |
PheGenI | rs1060501253 |
Biobank | rs1060501253 |
1000 genomes | rs1060501253 |
hgdp | rs1060501253 |
ensembl | rs1060501253 |
geneview | rs1060501253 |
scholar | rs1060501253 |
rs1060501253 | |
pharmgkb | rs1060501253 |
gwascentral | rs1060501253 |
openSNP | rs1060501253 |
23andMe | rs1060501253 |
SNPshot | rs1060501253 |
SNPdbe | rs1060501253 |
MSV3d | rs1060501253 |
GWAS Ctlg | rs1060501253 |
Max Magnitude | 7.5 |
aka c.161delC (p.Pro54Argfs)
ClinVar | |
---|---|
Risk | rs1060501253(-;-) |
Alt | rs1060501253(-;-) |
Reference | Rs1060501253(C;C) |
Significance | Pathogenic |
Disease | Drash syndrome Frasier syndrome Wilms tumor 1 |
Variation | info |
Gene | WT1 |
CLNDBN | Drash syndrome Frasier syndrome Wilms tumor 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.32449577delG |
CLNSRC | |
CLNACC | RCV000469904.1, |