chr7:128578301:T>G Detail (hg19) (IRF5)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:128,578,301-128,578,301 |
hg38 | chr7:128,938,247-128,938,247 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001098629.2:c.-12+198T>G | |
NM_001098630.2:c.-12+198T>G | ||
NM_001242452.2:c.-12+198T>G |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | 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 | rheumatoid arthritis | Two of the IRF5 polymorphisms, CGGGGindel (OR 1.38, 95% CI 1.09-1.76, pcorr = 0.... | BeFree | 18843785 | Detail |
0.005 | pulmonary fibrosis | Association between the IRF5 rs2004640 functional polymorphism and systemic scle... | BeFree | 19116937 | Detail |
0.257 | systemic scleroderma | Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 ... | BeFree | 21149496 | Detail |
0.004 | rheumatoid arthritis | A combined analysis including all 3 independent cohorts from the previous study ... | BeFree | 18843785 | Detail |
0.143 | systemic scleroderma | Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 ... | BeFree | 21149496 | Detail |
0.143 | systemic scleroderma | Association between the IRF5 rs2004640 functional polymorphism and systemic scle... | BeFree | 19116937 | Detail |
0.005 | pulmonary fibrosis | [Association between the IRF5 rs2004640 functional polymorphism and systemic scl... | GAD | 19116937 | Detail |
<0.001 | pulmonary fibrosis | SSc patients of Han Chinese showed increased homozygous TT genotype of the rs200... | BeFree | 25572744 | Detail |
0.235 | Lupus Erythematosus, Systemic | Association between the rs2004640 functional polymorphism of interferon regulato... | BeFree | 19043711 | Detail |
0.235 | Lupus Erythematosus, Systemic | [Association between the rs2004640 functional polymorphism of interferon regulat... | GAD | 19043711 | Detail |
0.235 | Lupus Erythematosus, Systemic | The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reporte... | BeFree | 21239750 | Detail |
0.143 | systemic scleroderma | [Association between the IRF5 rs2004640 functional polymorphism and systemic scl... | GAD | 19116937 | Detail |
<0.001 | systemic scleroderma | SSc patients of Han Chinese showed increased homozygous TT genotype of the rs200... | BeFree | 25572744 | Detail |
0.143 | systemic scleroderma | Association of the IRF5 SNP rs2004640 with systemic sclerosis in Han Chinese. | BeFree | 25572744 | Detail |
<0.001 | Hamman-Rich syndrome | In a multivariate analysis model including the diffuse cutaneous subtype of SSc ... | BeFree | 19116937 | Detail |
0.282 | rheumatoid arthritis | Association of the IRF5 rs2004640 polymorphism with rheumatoid arthritis: a meta... | BeFree | 23801380 | Detail |
<0.001 | Polyarthritis | We found a novel association between interferon regulatory factor 5 (IRF5), rs20... | BeFree | 22179739 | Detail |
0.235 | Lupus Erythematosus, Systemic | Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the ... | BeFree | 17133578 | Detail |
0.002 | Fibrosis | [The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc.] | GAD | 19116937 | Detail |
<0.001 | uveitis | Consistently, the subphenotype analysis accordingly with the presence/absence of... | BeFree | 24116155 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Two of the IRF5 polymorphisms, CGGGGindel (OR 1.38, 95% CI 1.09-1.76, pcorr = 0.04) and rs2004640 (O... | DisGeNET | Detail |
Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspec... | DisGeNET | Detail |
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 ... | DisGeNET | Detail |
A combined analysis including all 3 independent cohorts from the previous study revealed an associat... | DisGeNET | Detail |
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 ... | DisGeNET | Detail |
Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspec... | DisGeNET | Detail |
[Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspe... | DisGeNET | Detail |
SSc patients of Han Chinese showed increased homozygous TT genotype of the rs2004640 (p = 0.027, odd... | DisGeNET | Detail |
Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and syst... | DisGeNET | Detail |
[Association between the rs2004640 functional polymorphism of interferon regulatory factor 5 and sys... | DisGeNET | Detail |
The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reported as conferring an i... | DisGeNET | Detail |
[Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: a new perspe... | DisGeNET | Detail |
SSc patients of Han Chinese showed increased homozygous TT genotype of the rs2004640 (p = 0.027, odd... | DisGeNET | Detail |
Association of the IRF5 SNP rs2004640 with systemic sclerosis in Han Chinese. | DisGeNET | Detail |
In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for a... | DisGeNET | Detail |
Association of the IRF5 rs2004640 polymorphism with rheumatoid arthritis: a meta-analysis. | DisGeNET | Detail |
We found a novel association between interferon regulatory factor 5 (IRF5), rs2004640 and JIA, in pa... | DisGeNET | Detail |
Two genetic variants of the IRF5 gene (rs2004640 in exon 1 and rs2280714 in the 3'-untranslated regi... | DisGeNET | Detail |
[The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc.] | DisGeNET | Detail |
Consistently, the subphenotype analysis accordingly with the presence/absence of this clinical condi... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs2004640 dbSNP
- Genome
- hg19
- Position
- chr7:128,578,301-128,578,301
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- G
Genome browser