STAT4
Gene name: signal transducer and activator of transcription 4
OMIM ID: 600558 Chromosome location: 2q32.2-q32.3
Polymorphisms
| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
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| Reference transcript | NM_001243835.1 |
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| DNA Change | c.1251+3543A>T |
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| A.A. Change | |
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| Exon/Intron | intron 14 |
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| Variation Type | substitution |
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| Reference SNP | rs1400654 |
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| Cases | 300 |
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| Controls | 624 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| A | 77% | 78% | | >0.5 |
|
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| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
|---|
| Reference transcript | NM_001243835.1 |
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| DNA Change | c.274-32512T>C |
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| A.A. Change | |
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| Exon/Intron | intron 3 |
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| Variation Type | substitution |
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| Reference SNP | rs6752770 |
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| Cases | 300 |
|---|
| Controls | 624 |
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| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| A | 64% | 66% | | >0.5 |
|
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| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.273+1150A>C |
|---|
| A.A. Change | |
|---|
| Exon/Intron | intron 3 |
|---|
| Variation Type | substitution |
|---|
| Reference SNP | rs1031509 |
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| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| C | 57% | 55% | | 0.25 |
|
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| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.-2+988T>C |
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| A.A. Change | |
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| Exon/Intron | intron 1 |
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| Variation Type | substitution |
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| Reference SNP | rs7572482 |
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| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
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| G | 52% | 47% | | 0.036 |
|
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| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|
| Disease/Phenotype | Mycobacterium tuberculosis, susceptibility to |
|---|
| Reference transcript | NM_001243835.1 |
|---|
| DNA Change | c.-1713A>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 | rs897200 |
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| Cases | 300 |
|---|
| Controls | 624 |
|---|
| Frequency | | Allele/Genotype | Frequency in cases | Frequency in controls | OR (95%CI) | P-value |
|---|
| G | 51% | 46% | | 0.03 |
|
|---|
| Reference | Sabri A, Grant AV, Cosker K, El Azbaoui S, Abid A, Abderrahmani Rhorfi I, Souhi H, Janah H, Alaoui-Tahiri K, Gharbaoui Y, Benkirane M, Orlova M, Boland A, Deswarte C, Migaud M, Bustamante J, Schurr E, Boisson-Dupuis S, Casanova JL, Abel L, El Baghdadi J.
Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.
J Infect Dis. 2014 Aug 15;210(4):611-8. |
|---|