VEGFA
Gene name: vascular endothelial growth factor A
OMIM ID: 192240 Chromosome location: 6p21.1
Polymorphisms
| Disease/Phenotype | Breast cancer, susceptibility to |
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| Reference transcript | NM_001025366.2 |
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| DNA Change | c.*237C>T (+936C/T) |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs3025039 |
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| Cases | 70 |
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| Controls | 70 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 94% | 94% | | | | T | 6% | 6% | | | | CC | 87.1% | 88.6% | 1 | | | CT | 12.9% | 11.4% | 0.87 (0.32-2.42) | 0.8 | | TT | 0% | 0% | - | - |
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| Reference | Rahoui J, Sbitti Y, Touil N, Laraqui A, Ibrahimi A, Rhrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.The single nucleotide polymorphism +936 C/T VEGF is associated with human epidermal growth factor receptor 2 expression in Moroccan breast cancer women.
Med Oncol. 2014 Dec;31(12):336. |
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| Disease/Phenotype | Breast cancer, susceptibility to |
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| Reference transcript | NM_001171624.1 |
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| DNA Change | c.-1154A>G |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs1570360 |
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| Cases | 70 |
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| Controls | 70 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 75% | 63% | | | | A | 25% | 37% | | | | GG | 60.0% | 40.0% | 1 | | | GA | 30.0% | 45.7% | 2.29 (1.10-4.74) | 0.059 | | AA | 10.0% | 14.3% | 2.14 (0.73-6.30) | | | GA+AA | 40.0% | 60.0% | 2.25 (1.14-4.42) | 2.25 |
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| Reference | Rahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193. |
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| Disease/Phenotype | Breast cancer, susceptibility to |
|---|
| Reference transcript | NM_001025366.2 |
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| DNA Change | c.-2055A>C (-2578C/A) |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs699947 |
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| Cases | 70 |
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| Controls | 70 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| C | 66% | 56% | | | | A | 34% | 44% | | | | CC | 45.7% | 27.1% | 1 | | | CA | 40.0% | 57.1% | 2.41 (1.14-5.07) | 0.063 | | AA | 14.3% | 15.7% | 1.85 (0.66-5.18) | | | CA+AA | 54.3% | 72.9% | 2.26 (1.12-4.58) | 0.022 |
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| Reference | Rahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193. |
|---|
| Disease/Phenotype | Breast cancer, susceptibility to |
|---|
| Reference transcript | NM_001171623.1 |
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| DNA Change | c.-634C>G |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs2010963 |
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| Cases | 70 |
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| Controls | 70 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 61% | 73% | | | | C | 39% | 27% | | | | GG | 37.1% | 51.4% | 1 | | | GC | 47.1% | 42.9% | 0.66 (0.32-1.33) | 0.076 | | CC | 15.7% | 5.7% | 0.26 (0.08-0.92) | | | GC+CC | 62.9% | 48.6% | 0.56 (0.28-1.10) | 0.088 |
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| Reference | Rahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193. |
|---|
| Disease/Phenotype | Breast cancer, susceptibility to |
|---|
| Reference transcript | NM_001025366.2 |
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| DNA Change | c.-958C>T (-460T/C) |
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| A.A. Change | |
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| Exon/Intron | 5' of the ATG codon |
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| Variation Type | substitution |
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| Reference SNP | rs833061 |
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| Cases | 70 |
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| Controls | 70 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| T | 56% | 51% | | | | C | 44% | 49% | | | | TT | 38.6% | 22.9% | 1 | | | TC | 35.7% | 55.7% | 2.63 (1.19-5.84) | 0.045 | | CC | 25.7% | 21.4% | 1.41 (0.56-3.54) | | | TC+CC | 61.4% | 77.1% | 2.12 (1.01-4.43) | 0.043 |
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| Reference | Rahoui J, Laraqui A, Sbitti Y, Touil N, Ibrahimi A, Ghrab B, Al Bouzidi A, Moussaoui Rahali D, Dehayni M, Ichou M, Zaoui F, Mrani S.Investigating the association of vascular endothelial growth factor polymorphisms with breast cancer: a Moroccan case-control study.
Med Oncol. 2014 Sep;31(9):193. |
|---|