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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 607218 OMIM
HGNC 6120 HGNC
Ensembl ENSG00000128604 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
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

DescrptionSourceLinks
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