chr2:191099907:T>G Detail (hg38) (STAT4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:191,964,633-191,964,633 View the variant detail on this assembly version. |
| hg38 | chr2:191,099,907-191,099,907 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001243835.1:c.274-23582A>C | |
| NM_003151.3:c.274-23582A>C | ||
| Ensemble | ENST00000358470.8:c.274-23582A>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.668 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.001 | hepatitis B | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.011 | hepatitis B | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| <0.001 | Hepatitis B Virus-Related Hepatocellular Carcinoma | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.032 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.004 | hepatitis C | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.001 | hepatitis B | Genome-wide association studies (GWAS) have identified three loci (rs17401966 in... | BeFree | 24204805 | Detail |
| 0.257 | systemic scleroderma | Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 ... | BeFree | 21149496 | Detail |
| 0.143 | systemic scleroderma | Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 ... | BeFree | 21149496 | Detail |
| 0.317 | rheumatoid arthritis | The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of th... | BeFree | 22937072 | Detail |
| 0.360 | rheumatoid arthritis | The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of th... | BeFree | 22937072 | Detail |
| 0.524 | rheumatoid arthritis | The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of th... | BeFree | 22937072 | Detail |
| 0.019 | Juvenile arthritis | STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of... | BeFree | 25781893 | Detail |
| 0.004 | juvenile rheumatoid arthritis | STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of... | BeFree | 25781893 | Detail |
| 0.317 | rheumatoid arthritis | Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confiden... | BeFree | 23450725 | Detail |
| 0.168 | rheumatoid arthritis | Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confiden... | BeFree | 23450725 | Detail |
| 0.025 | systemic scleroderma | We examined the relationship between five gene polymorphisms [cytotoxic T lympho... | BeFree | 22173230 | Detail |
| 0.017 | systemic scleroderma | We examined the relationship between five gene polymorphisms [cytotoxic T lympho... | BeFree | 22173230 | Detail |
| 0.257 | systemic scleroderma | We examined the relationship between five gene polymorphisms [cytotoxic T lympho... | BeFree | 22173230 | Detail |
| 0.023 | Lupus Erythematosus, Systemic | Using a list of 11 single nucleotide polymorphisms from the results of genome-wi... | BeFree | 25882064 | Detail |
| <0.001 | Hematological Disease | It was showed that rs7574865 of STAT4 is also linked to hematologic disorders an... | BeFree | 19225526 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | A recent study in the North American White population has documented the associa... | BeFree | 17932559 | Detail |
| 0.017 | Autoimmune Diseases | We found that mutated allele T of the STAT4 rs7574865 SNP, which previously was ... | BeFree | 19500629 | Detail |
| 0.121 | Primary biliary cirrhosis | Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals ... | GWASCAT | 23000144 | Detail |
| <0.001 | Lung Diseases, Interstitial | The association between this STAT4 polymorphism and interstitial lung disease (I... | BeFree | 22402141 | Detail |
| 0.317 | rheumatoid arthritis | Replication study of STAT4 rs7574865 G/T polymorphism and risk of rheumatoid art... | BeFree | 23727609 | Detail |
| 0.017 | Autoimmune Diseases | Taking into consideration that the different autoimmune diseases may share some ... | BeFree | 21237270 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | [The genetic contribution towards predicting early-onset disease in patients wit... | GAD | 20881011 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | For example, rs7574865 in STAT4 had an OR for anti-dsDNA + SLE of 1.77 (95% CI 1... | GWASCAT | 21408207 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | Association of STAT4 rs7574865 with susceptibility to systemic lupus erythematos... | BeFree | 23912645 | Detail |
| 0.017 | Autoimmune Diseases | We recently reported for the first time as a PS-associated SNP the signal transd... | BeFree | 20039785 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | Furthermore, the stratified meta-analysis also demonstrate that the STAT4 rs7574... | BeFree | 23628400 | Detail |
| 0.006 | Autoimmune Diseases | STAT4 rs7574865T allele disclosed a significant influence on the risk of develop... | BeFree | 18432273 | Detail |
| 0.360 | rheumatoid arthritis | In addition to specific alleles of HLA-DRB1, the minor T allele of STAT4 rs75748... | BeFree | 19479340 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, C... | GWASCAT | 23273568 | Detail |
| 0.317 | rheumatoid arthritis | The association of STAT4 polymorphism rs7574865 with RA was validated in patient... | BeFree | 18759272 | Detail |
| 0.257 | systemic scleroderma | Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sys... | GWASCAT | 21750679 | Detail |
| 0.002 | Sclerosis | [Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for sy... | GAD | 21750679 | Detail |
| 0.317 | rheumatoid arthritis | To test the hypothesis that the variant haplotype of STAT4 seen in RA and SLE is... | BeFree | 18273036 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | GWAS identifies novel SLE susceptibility genes and explains the association of t... | GWASCAT | 24871463 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | This meta-analysis demonstrates that the STAT4 rs7574865 T allele confers suscep... | BeFree | 22714917 | Detail |
| 0.006 | ulcerative colitis | The association of STAT4 polymorphism rs7574865 with RA was validated in patient... | BeFree | 18759272 | Detail |
| 0.003 | psoriasis | We recently reported for the first time as a PS-associated SNP the signal transd... | BeFree | 20039785 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. | GWASCAT | 18204098 | Detail |
| 0.007 | antiphospholipid syndrome | [STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphosphol... | GAD | 19605742 | Detail |
| 0.006 | Crohn Disease | The association of STAT4 polymorphism rs7574865 with RA was validated in patient... | BeFree | 18759272 | Detail |
| 0.122 | Inflammatory Bowel Diseases | The aim of the present study was to reevaluate the role of the STAT4 rs7574865 p... | BeFree | 20153791 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | Genome-wide association study in a Chinese Han population identifies nine new su... | GWASCAT | 19838193 | Detail |
| 0.017 | Autoimmune Diseases | An analysis of hepatocellular DILI (n=285) restricted to 193 single-nucleotide p... | BeFree | 22968431 | Detail |
| 0.317 | rheumatoid arthritis | Genome-wide association study meta-analysis identifies seven new rheumatoid arth... | GWASCAT | 20453842 | Detail |
| 0.317 | rheumatoid arthritis | An updated meta-analysis of the signal transducer and activator of transcription... | BeFree | 25179669 | Detail |
| <0.001 | irritable bowel syndrome | Moreover, a significant correlation between risk alleles and methylation status ... | BeFree | 22569826 | Detail |
| 0.122 | Inflammatory Bowel Diseases | The association of STAT4 polymorphism rs7574865 with RA was validated in patient... | BeFree | 18759272 | Detail |
| 0.317 | rheumatoid arthritis | Association between the rs7574865 polymorphism of STAT4 and rheumatoid arthritis... | BeFree | 19588142 | Detail |
| 0.120 | Systemic lupus erythematosus, susceptibility to, 11 | NA | CLINVAR | Detail | |
| 0.324 | Lupus Erythematosus, Systemic | [For example, rs7574865 in STAT4 had an OR for anti-dsDNA + SLE of 1.77 (95% CI ... | GAD | 21408207 | Detail |
| 0.003 | arthritis | The TT genotype of the STAT4 rs7574865 polymorphism is associated with high dise... | BeFree | 22937072 | Detail |
| 0.089 | Diabetes Mellitus, Insulin-Dependent | The association of STAT4 polymorphism rs7574865 with RA was validated in patient... | BeFree | 18759272 | Detail |
| 0.006 | Crohn Disease | Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with col... | BeFree | 20454450 | Detail |
| 0.242 | liver carcinoma | We also found significantly lower mRNA expression of STAT4 in HCC tumor tissues ... | GWASCAT | 23242368 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | Recently, the association of a STAT4 haplotype marked by rs7574865 with rheumato... | BeFree | 18759272 | Detail |
| 0.317 | rheumatoid arthritis | [Association between the rs7574865 polymorphism of STAT4 and rheumatoid arthriti... | GAD | 19588142 | Detail |
| 0.017 | Autoimmune Diseases | [We also confirmed that 4 gene loci previously established in either CD or RA ar... | GAD | 21383967 | Detail |
| 0.017 | Autoimmune Diseases | Association of STAT4 rs7574865 polymorphism with autoimmune diseases: a meta-ana... | BeFree | 22714917 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | To test the hypothesis that the variant haplotype of STAT4 seen in RA and SLE is... | BeFree | 18273036 | Detail |
| 0.324 | Lupus Erythematosus, Systemic | In the non-HLA region, meta-analysis identified 6 SNPs associated with SLE with ... | GWASCAT | 23053960 | Detail |
| 0.022 | rheumatoid arthritis | Genetic polymorphism rs7574865 in STAT4 gene might be associated with RA suscept... | BeFree | 23295549 | Detail |
| 0.017 | Autoimmune Diseases | Our data strengthen STAT4 rs7574865 polymorphism as a susceptibility factor for ... | BeFree | 18432273 | Detail |
| 0.006 | ulcerative colitis | Genomic DNA from 2704 individuals of Caucasian origin including 857 patients wit... | BeFree | 20454450 | Detail |
| 0.317 | rheumatoid arthritis | In addition, rs7574865 and rs10181656, in STAT4, were associated with ACPA-posit... | BeFree | 22753649 | Detail |
| 0.345 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.311 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.277 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.317 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.524 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.254 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
| 0.129 | rheumatoid arthritis | Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs30... | BeFree | 20498205 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in... | DisGeNET | Detail |
| Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 ... | DisGeNET | Detail |
| Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 ... | DisGeNET | Detail |
| The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 an... | DisGeNET | Detail |
| The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 an... | DisGeNET | Detail |
| The number of copies of the HLA-DRB1 shared epitope, and the minor alleles of the STAT4 rs7574865 an... | DisGeNET | Detail |
| STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile... | DisGeNET | Detail |
| STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile... | DisGeNET | Detail |
| Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.8... | DisGeNET | Detail |
| Childhood-onset RA was associated with TNFAIP3 rs10499194 (OR 0.60 [95% confidence interval 0.44-0.8... | DisGeNET | Detail |
| We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... | DisGeNET | Detail |
| We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... | DisGeNET | Detail |
| We examined the relationship between five gene polymorphisms [cytotoxic T lymphocyte associated anti... | DisGeNET | Detail |
| Using a list of 11 single nucleotide polymorphisms from the results of genome-wide association studi... | DisGeNET | Detail |
| It was showed that rs7574865 of STAT4 is also linked to hematologic disorders and potentially some o... | DisGeNET | Detail |
| A recent study in the North American White population has documented the association of a common STA... | DisGeNET | Detail |
| We found that mutated allele T of the STAT4 rs7574865 SNP, which previously was implicated in the pr... | DisGeNET | Detail |
| Among 21 non-HLA susceptibility loci for PBC identified in GWASs of individuals of European descent,... | DisGeNET | Detail |
| The association between this STAT4 polymorphism and interstitial lung disease (ILD) was also investi... | DisGeNET | Detail |
| Replication study of STAT4 rs7574865 G/T polymorphism and risk of rheumatoid arthritis in a Chinese ... | DisGeNET | Detail |
| Taking into consideration that the different autoimmune diseases may share some common pathogenetic ... | DisGeNET | Detail |
| [The genetic contribution towards predicting early-onset disease in patients with SLE is quantified ... | DisGeNET | Detail |
| For example, rs7574865 in STAT4 had an OR for anti-dsDNA + SLE of 1.77 (95% CI 1.57-1.99, p = 2.0E-2... | DisGeNET | Detail |
| Association of STAT4 rs7574865 with susceptibility to systemic lupus erythematosus in Iranian popula... | DisGeNET | Detail |
| We recently reported for the first time as a PS-associated SNP the signal transducer and activator o... | DisGeNET | Detail |
| Furthermore, the stratified meta-analysis also demonstrate that the STAT4 rs7574865 polymorphism is ... | DisGeNET | Detail |
| STAT4 rs7574865T allele disclosed a significant influence on the risk of developing SLE (P=0.0005; O... | DisGeNET | Detail |
| In addition to specific alleles of HLA-DRB1, the minor T allele of STAT4 rs7574865 SNP is a common R... | DisGeNET | Detail |
| Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID... | DisGeNET | Detail |
| The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin ... | DisGeNET | Detail |
| Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. | DisGeNET | Detail |
| [Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.] | DisGeNET | Detail |
| To test the hypothesis that the variant haplotype of STAT4 seen in RA and SLE is also associated wit... | DisGeNET | Detail |
| GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. | DisGeNET | Detail |
| This meta-analysis demonstrates that the STAT4 rs7574865 T allele confers susceptibility to SLE, RA,... | DisGeNET | Detail |
| The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin ... | DisGeNET | Detail |
| We recently reported for the first time as a PS-associated SNP the signal transducer and activator o... | DisGeNET | Detail |
| Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. | DisGeNET | Detail |
| [STAT4 single nucleotide polymorphism, rs7574865 G/T, as a risk for antiphospholipid syndrome.] | DisGeNET | Detail |
| The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin ... | DisGeNET | Detail |
| The aim of the present study was to reevaluate the role of the STAT4 rs7574865 polymorphism on IBD. | DisGeNET | Detail |
| Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci fo... | DisGeNET | Detail |
| An analysis of hepatocellular DILI (n=285) restricted to 193 single-nucleotide polymorphisms previou... | DisGeNET | Detail |
| Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | DisGeNET | Detail |
| An updated meta-analysis of the signal transducer and activator of transcription 4 (STAT4) rs7574865... | DisGeNET | Detail |
| Moreover, a significant correlation between risk alleles and methylation status at -172 of the STAT4... | DisGeNET | Detail |
| The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin ... | DisGeNET | Detail |
| Association between the rs7574865 polymorphism of STAT4 and rheumatoid arthritis: a meta-analysis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [For example, rs7574865 in STAT4 had an OR for anti-dsDNA + SLE of 1.77 (95% CI 1.57-1.99, pa=a2.0E-... | DisGeNET | Detail |
| The TT genotype of the STAT4 rs7574865 polymorphism is associated with high disease activity and dis... | DisGeNET | Detail |
| The association of STAT4 polymorphism rs7574865 with RA was validated in patients of Spanish origin ... | DisGeNET | Detail |
| Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease... | DisGeNET | Detail |
| We also found significantly lower mRNA expression of STAT4 in HCC tumor tissues compared with paired... | DisGeNET | Detail |
| Recently, the association of a STAT4 haplotype marked by rs7574865 with rheumatoid arthritis (RA) an... | DisGeNET | Detail |
| [Association between the rs7574865 polymorphism of STAT4 and rheumatoid arthritis: a meta-analysis.] | DisGeNET | Detail |
| [We also confirmed that 4 gene loci previously established in either CD or RA are associated with th... | DisGeNET | Detail |
| Association of STAT4 rs7574865 polymorphism with autoimmune diseases: a meta-analysis. | DisGeNET | Detail |
| To test the hypothesis that the variant haplotype of STAT4 seen in RA and SLE is also associated wit... | DisGeNET | Detail |
| In the non-HLA region, meta-analysis identified 6 SNPs associated with SLE with genome-wide signific... | DisGeNET | Detail |
| Genetic polymorphism rs7574865 in STAT4 gene might be associated with RA susceptibility in total sub... | DisGeNET | Detail |
| Our data strengthen STAT4 rs7574865 polymorphism as a susceptibility factor for RA and SLE and provi... | DisGeNET | Detail |
| Genomic DNA from 2704 individuals of Caucasian origin including 857 patients with Crohn's disease (C... | DisGeNET | Detail |
| In addition, rs7574865 and rs10181656, in STAT4, were associated with ACPA-positive RA in the Swedis... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
| Eight markers (ie, rs1160542 (AFF3), rs1678542 (KIF5A), rs2476601 (PTPN22), rs3087243 (CTLA4), rs481... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs7574865 dbSNP
- Genome
- hg38
- Position
- chr2:191,099,907-191,099,907
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs7574865
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6678
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11193
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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