rs1990760
| Associated with autoimmune diseases |
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1990760(C;T) |
| Make rs1990760(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 162267541 |
| Gene | IFIH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1990760 |
| dbSNP (classic) | rs1990760 |
| ClinGen | rs1990760 |
| ebi | rs1990760 |
| HLI | rs1990760 |
| Exac | rs1990760 |
| Gnomad | rs1990760 |
| Varsome | rs1990760 |
| LitVar | rs1990760 |
| Map | rs1990760 |
| PheGenI | rs1990760 |
| Biobank | rs1990760 |
| 1000 genomes | rs1990760 |
| hgdp | rs1990760 |
| ensembl | rs1990760 |
| geneview | rs1990760 |
| scholar | rs1990760 |
| rs1990760 | |
| pharmgkb | rs1990760 |
| gwascentral | rs1990760 |
| openSNP | rs1990760 |
| 23andMe | rs1990760 |
| SNPshot | rs1990760 |
| SNPdbe | rs1990760 |
| MSV3d | rs1990760 |
| GWAS Ctlg | rs1990760 |
| GMAF | 0.3669 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
This SNP is unclear. According to GWAS one study says risk allele is A, another study says risk allele is C. Ambiguous flip ?
associated with type-1 diabetes, organ-specific autoimmune diseases, including Graves' disease. (odds ratio 1.47 (CI: 1.23–1.76, p = 1.9 x 10–5)
This polymorphism may also contribute to several other autoimmune disorders.
[PMID 18026693] A study of 261 Chinese patients with Graves' disease failed to find any association with rs1990760.
[PMID 19156166
] A study of 591 French Caucasian multiple sclerosis trio families found no association between rs1990760 or rs2068330 and the disease, which did not confirm one previously reported study.
| GWAS snp | |
|---|---|
| PMID | [PMID 17554260]
|
| Trait | Type 1 diabetes |
| Title | Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes |
| Risk Allele | A |
| P-val | 1.9999999999999999E-11 |
| Odds Ratio | 1.18 [1.11-1.23] |
| GWAS snp | |
|---|---|
| PMID | [PMID 19430480]
|
| Trait | Type 1 diabetes |
| Title | Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes |
| Risk Allele | |
| P-val | 7E-9 |
| Odds Ratio | NR NR |
[PMID 19450885] Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1
[PMID 19841890] The interferon-induced helicase IFIH1 Ala946Thr polymorphism is associated with type 1 diabetes in both the high-incidence Finnish and the medium-incidence Hungarian populations
[PMID 19956106] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
[PMID 20467774] Interferon-induced helicase (IFIH1) polymorphism with systemic lupus erythematosus and dermatomyositis/polymyositis
[PMID 20694011] Association of IFIH1 and other autoimmunity risk alleles with selective IgA deficiency
[PMID 22110759] Polymorphisms in the Innate Immune IFIH1 Gene, Frequency of Enterovirus in Monthly Fecal Samples during Infancy, and Islet Autoimmunity
| GWAS snp | |
|---|---|
| PMID | [PMID 21829393]
|
| Trait | |
| Title | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. |
| Risk Allele | C |
| P-val | 2E-14 |
| Odds Ratio | 1.2000 [NR] |
[PMID 16699517] A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region.
[PMID 17442111] The interferon induced with helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis.
[PMID 17535987] Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility.
[PMID 17940599] Assembly of inflammation-related genes for pathway-focused genetic analysis.
[PMID 18071670] The association between the IFIH1 locus and type 1 diabetes.
[PMID 18285833] IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk.
[PMID 18556337] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).
[PMID 18647951] A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3.
[PMID 18776148] Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms.
[PMID 18840781] Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
[PMID 18927125] IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.
[PMID 18987646] The expanding genetic overlap between multiple sclerosis and type I diabetes.
[PMID 19073967] Shared and distinct genetic variants in type 1 diabetes and celiac disease.
[PMID 19251732] Dense genome-wide SNP linkage scan in 301 hereditary prostate cancer families identifies multiple regions with suggestive evidence for linkage.
[PMID 19264985] Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
[PMID 19359276] Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.
[PMID 19539001] IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in the Belgian population.
[PMID 19732865] A generalized family-based association test for dichotomous traits.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[PMID 19956101] Overview of the Rapid Response data.
[PMID 19956109] The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.
[PMID 19961590] The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease.
[PMID 20018022] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.
[PMID 20644636] Study of transcriptional effects in Cis at the IFIH1 locus.
[PMID 21705624] Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-alpha and serologic autoimmunity in lupus patients.
[PMID 22053898] IFIH1 gene polymorphisms in type 1 diabetes: genetic association analysis and genotype-phenotype correlation in Chinese Han population.
[PMID 22152027] Genetic variants in IFIH1 play opposite roles in the pathogenesis of psoriasis and chronic periodontitis.
[PMID 23144876] Enterovirus RNA in Peripheral Blood May Be Associated with the Variants of rs1990760, a Common Type 1 Diabetes Associated Polymorphism in IFIH1
[PMID 23441136] Admixture Mapping in Lupus Identifies Multiple Functional Variants within IFIH1 Associated with Apoptosis, Inflammation, and Autoantibody Production
[PMID 23734776] Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: A meta-analysis
[PMID 22789000] Polymorphisms in the interferon-induced helicase (IFIH1) locus and susceptibility to Addison's disease
[PMID 24386202] The A Allele of the rs1990760 Polymorphism in the IFIH1 Gene Is Associated with Protection for Arterial Hypertension in Type 1 Diabetic Patients and with Expression of This Gene in Human Mononuclear Cells
[PMID 24621100] A Polymorphism in Melanoma Differentiation-associated Gene 5 May Be a Risk Factor for Enterovirus 71 Infection
[PMID 23108955] Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population.
[PMID 24960033] Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population
[PMID 25337792] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population
[PMID 25515714] Cumulative effect of IFIH1 variants and increased gene expression associated with type 1 diabetes
[PMID 26074154] Non-HLA gene effects on the disease process of type 1 diabetes: From HLA susceptibility to overt disease.
| ClinVar | |
|---|---|
| Risk | rs1990760(T;T) |
| Alt | rs1990760(T;T) |
| Reference | Rs1990760(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | IFIH1 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.163124051C>T |
| CLNSRC | |
| CLNACC | RCV000245445.1, |
[PMID 29930297] Autoimmune disease associated IFIH1 single nucleotide polymorphism related with IL-18 serum levels in Chinese systemic lupus erythematosus patients.
[PMID 29973096] Analysis of chosen polymorphisms rs2476601 a/G - PTPN22, rs1990760 C/T - IFIH1, rs179247 a/G - TSHR in pathogenesis of autoimmune thyroid diseases in children.
[PMID 30761886] The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition
[PMID 31733941] The interferon-induced helicase C domain-containing protein 1 gene variant (rs1990760) as an autoimmune-based pathology susceptibility factor.
