Rs710521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 1.4x increased risk of developing bladder cancer.
(A;G) 1.5 Normal risk of developing bladder cancer.
(G;G) 2 Lower (0.83x) risk of developing bladder cancer.
ReferenceGRCh38 38.1/141
Chromosome3
Position189928144
is asnp
is mentioned by
dbSNPrs710521
ebirs710521
Exacrs710521
PheGenIrs710521
hapmaprs710521
1000 genomesrs710521
hgdprs710521
ensemblrs710521
gopubmedrs710521
geneviewrs710521
scholarrs710521
googlers710521
pharmgkbrs710521
gwascentralrs710521
openSNPrs710521
23andMers710521
23andMe allrs710521
SNP Nexus

SNPshotrs710521
SNPdbers710521
MSV3drs710521
GWAS Ctlgrs710521
GMAF0.2305
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs710521 is a SNP located in chromosome region 3q38, near the TP63 gene.

A study ultimately totaling over 4,000 bladder cancer patients of European ancestry (and 40,000 controls) concluded that individuals carrying two copies of rs710521(A) were at 1.4x increased risk (allele-specific odds ratio = 1.19, p = 1 x 10e-7) for the disease.[PMID 18794855OA-icon.png]

[PMID 21063684] An additional 1,425 bladder cancer patients, supplemented by a meta-analysis of 5,695 additional cases (and 40,000+ controls), did replicate a (somewhat) increased risk associated with the rs710521(A) allele. The overall odds ratio was 1.18 (OR: 1.12 - 1.25, p < 0.0001).

Another study in Chinese populations did not find an increased risk of bladder cancer for this SNP. [PMID 19369583]

GWAS
SNP rs710521
PubMedID [PMID 18794855OA-icon.png]
Condition Urinary bladder cancer
Gene TP63
Risk Allele A
pValue 1.00E-007
OR 1.19
95% CI 1.12-1.27


OMIM109800
DescBLADDER CANCER
Variant
Relatedalso


GWAS snp
PMID [PMID 20348956OA-icon.png]
Trait Urinary bladder cancer
Title A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer
Risk Allele A
P-val 6E-8
Odds Ratio 1.19 [1.12-1.27]
GWAS snp
PMID [PMID 20972438OA-icon.png]
Trait
Title A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
Risk Allele A
P-val 2E-10
Odds Ratio 1.1800 [1.12-1.24]


GET Evidence
rs710521
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.195312
summary



[PMID 22994575] Bladder cancer survival in a former industrial area in Saxony-Anhalt, Germany

GWAS snp
PMID [PMID 24163127OA-icon.png]
Trait Bladder cancer
Title Genome-wide association study identifies multiple loci associated with bladder cancer risk.
Risk Allele A
P-val 2E-11
Odds Ratio 1.14 [1.10-1.19]


[PMID 25218484] Replicative study of GWAS TP63C/T, TERTC/T, and SLC14A1C/T with susceptibility to bladder cancer in North Indians