rs16260
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.6x increased risk of prostate cancer | |
| (A;C) | 1.5-1.7x increased risk of prostate cancer | |
| (C;C) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 68737131 |
| Gene | CDH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs16260 |
| dbSNP (classic) | rs16260 |
| ClinGen | rs16260 |
| ebi | rs16260 |
| HLI | rs16260 |
| Exac | rs16260 |
| Gnomad | rs16260 |
| Varsome | rs16260 |
| LitVar | rs16260 |
| Map | rs16260 |
| PheGenI | rs16260 |
| Biobank | rs16260 |
| 1000 genomes | rs16260 |
| hgdp | rs16260 |
| ensembl | rs16260 |
| geneview | rs16260 |
| scholar | rs16260 |
| rs16260 | |
| pharmgkb | rs16260 |
| gwascentral | rs16260 |
| openSNP | rs16260 |
| 23andMe | rs16260 |
| SNPshot | rs16260 |
| SNPdbe | rs16260 |
| MSV3d | rs16260 |
| GWAS Ctlg | rs16260 |
| GMAF | 0.2323 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 14961571, PMID 16189707] rs16260 (A) SNP located in the promoter region of the E-cadherin CDH1 gene is associated with increased risk of hereditary prostate cancer.
The effect appears to be additive, in that compared to the rs16260(C;C) homozygotes, the rs16260(A;C) heterozygotes are at about a 1.5 - 1.7 fold increased risk, and the rs16260(A;A) homozygotes are at about a 2.6 fold increased risk.
- see also OMIM 192090.0018
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[PMID 22792244
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[PMID 19011631
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[PMID 19034965
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[PMID 19551141
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[PMID 19567509
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[PMID 19671196
] Absence of germline mono-allelic promoter hypermethylation of the CDH1 gene in gastric cancer patients.
[PMID 20632448
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[PMID 22330421] E-cadherin polymorphisms and susceptibility to arsenic-related skin lesions in West Bengal, India.
[PMID 23231047] Association Between CDH1 and MSX1 Gene Polymorphisms and the Risk of Nonsyndromic Cleft Lip and/or Cleft Palate in a Southeast Iranian Population
[PMID 24023817
] The -160C>A Polymorphism in e-Cadherin Is Associated with the Risk of Nephrolithiasis
[PMID 10706097] A single nucleotide polymorphism in the E-cadherin gene promoter alters transcriptional activities.
[PMID 24838934
] Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate
[PMID 25150394] Genetic variation of the E-cadherin gene is associated with primary infertility in patients with ovarian endometriosis
| ClinVar | |
|---|---|
| Risk | Rs16260(A;A) |
| Alt | Rs16260(A;A) |
| Reference | Rs16260(C;C) |
| Significance | Other |
| Disease | Prostate cancer |
| Variation | info |
| Gene | CDH1 |
| CLNDBN | Prostate cancer, susceptibility to |
| Reversed | 0 |
| HGVS | NC_000016.9:g.68771034C>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000013034.3, |
[PMID 27852262
] E-cadherin genetic variants predict survival outcome in breast cancer patients.
