rs35592567
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs35592567(C;T) |
Make rs35592567(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 189896847 |
Gene | TP63 |
is a | snp |
is | mentioned by |
dbSNP | rs35592567 |
dbSNP (classic) | rs35592567 |
ClinGen | rs35592567 |
ebi | rs35592567 |
HLI | rs35592567 |
Exac | rs35592567 |
Gnomad | rs35592567 |
Varsome | rs35592567 |
LitVar | rs35592567 |
Map | rs35592567 |
PheGenI | rs35592567 |
Biobank | rs35592567 |
1000 genomes | rs35592567 |
hgdp | rs35592567 |
ensembl | rs35592567 |
geneview | rs35592567 |
scholar | rs35592567 |
rs35592567 | |
pharmgkb | rs35592567 |
gwascentral | rs35592567 |
openSNP | rs35592567 |
23andMe | rs35592567 |
SNPshot | rs35592567 |
SNPdbe | rs35592567 |
MSV3d | rs35592567 |
GWAS Ctlg | rs35592567 |
Max Magnitude | 0 |
[PMID 26695686] A functional variant in TP63 at 3q28 associated with bladder cancer risk by creating a miR-140-5p binding site.
ClinVar | |
---|---|
Risk | rs35592567(G;G) rs35592567(T;T) |
Alt | rs35592567(G;G) rs35592567(T;T) |
Reference | Rs35592567(C;C) |
Significance | Non-pathogenic |
Disease | Cleft Lip +/- Cleft Palate Ectrodactyly TP63-Related Spectrum Disorders |
Variation | info |
Gene | TP63 |
CLNDBN | Cleft Lip +/- Cleft Palate, Autosomal Dominant Ectrodactyly TP63-Related Spectrum Disorders |
Reversed | 0 |
HGVS | NC_000003.11:g.189614636C>T |
CLNSRC | |
CLNACC | RCV000268729.1, RCV000328512.1, RCV000387433.1, |