chr1:113813811:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:114,356,433-114,414,375 |
| hg38 | chr1:113,813,811-113,871,753 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| 0.008 | celiac disease | NA | BeFree,GAD | Detail | |
| 0.002 | Cholangitis, Sclerosing | NA | GAD | Detail | |
| 0.002 | Chromosome Aberrations | NA | GAD | Detail | |
| <0.001 | Churg-Strauss syndrome | NA | BeFree | Detail | |
| <0.001 | colitis | NA | BeFree | Detail | |
| 0.003 | Connective Tissue Diseases | NA | BeFree,GAD | Detail | |
| 0.154 | Crohn Disease | After Bonferroni correction for multiple testing, both the homozygous and the he... | BeFree,GAD,GWASCAT | 24971461 | Detail |
| <0.001 | dermatitis | NA | BeFree | Detail | |
| <0.001 | dermatomyositis | NA | BeFree | Detail | |
| 0.002 | Diabetes | INS,UBASH3A, and IFIH1 were significantly associated with progression from IA to... | BeFree | 25075402 | Detail |
| 0.004 | diabetes mellitus | INS,UBASH3A, and IFIH1 were significantly associated with progression from IA to... | BeFree,GAD | 25075402 | Detail |
| 0.013 | Diabetes Mellitus, Non-Insulin-Dependent | The frequency of PTPN22 polymorphisms in the MODY patients was similar to those ... | BeFree,GAD | 25896041 | Detail |
| 0.014 | endometriosis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Esophageal Achalasia | NA | BeFree,GAD | Detail | |
| <0.001 | Disorder of eye | NA | BeFree | Detail | |
| 0.002 | Fetal Diseases | NA | GAD | Detail | |
| 0.120 | IgA glomerulonephritis | NA | CTD_human | Detail | |
| 0.145 | Graves Disease | Association analyses were performed for genes with a known influence on developm... | BeFree,CTD_human,GAD,LHGDN | 25061884 | Detail |
| 0.002 | Hemophilia A | NA | GAD | Detail | |
| 0.005 | hepatitis C | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.005 | Hypertensive disease | NA | GAD | Detail | |
| <0.001 | hyperthyroidism | NA | BeFree | Detail | |
| 0.005 | hypoparathyroidism | NA | GAD,LHGDN | Detail | |
| <0.001 | hypothyroidism | NA | BeFree | Detail | |
| <0.001 | Immune System Diseases | NA | BeFree | Detail | |
| 0.005 | Inflammation | NA | GAD | Detail | |
| 0.129 | Inflammatory Bowel Diseases | Polymorphisms in the inflammatory pathway genes TLR2, TLR4, TLR9, LY96, NFKBIA, ... | BeFree,CTD_human,GAD | 24971461 | Detail |
| 0.145 | Graves Disease | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... | BeFree | 20615141 | Detail |
| 0.001 | thyroiditis | We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3... | BeFree | 20615141 | Detail |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | Fibroid Tumor | Considering the whole sample, a borderline association between PTPN22 and leiomy... | BeFree | 25541531 | Detail |
| 0.002 | leprosy | NA | GAD | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| 0.003 | Biliary cirrhosis | NA | LHGDN | Detail | |
| 0.003 | Lupus Vulgaris | Our objectives were to identify novel alternatively spliced forms of PTPN22 and ... | BeFree,GAD | 24433447 | Detail |
| 0.003 | Lupus Erythematosus, Discoid | Our objectives were to identify novel alternatively spliced forms of PTPN22 and ... | BeFree,GAD | 24433447 | Detail |
| 0.002 | melanoma | NA | GAD | Detail | |
| 0.002 | Meniere disease | NA | GAD | Detail | |
| 0.006 | multiple sclerosis | NA | BeFree,GAD | Detail | |
| 0.002 | Musculoskeletal Diseases | NA | GAD | Detail | |
| <0.001 | Mycoses | NA | BeFree | Detail | |
| 0.002 | myositis | NA | GAD | Detail | |
| 0.524 | rheumatoid arthritis | Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheum... | BeFree | 23350658 | Detail |
| <0.001 | neuromyelitis optica | NA | BeFree | Detail | |
| <0.001 | pemphigus vulgaris | NA | BeFree | Detail | |
| <0.001 | plague | NA | BeFree | Detail | |
| <0.001 | polymyalgia rheumatica | NA | BeFree | Detail | |
| 0.002 | Postoperative Complications | NA | GAD | Detail | |
| 0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
| 0.002 | Prostatic Neoplasms | NA | GAD | Detail | |
| 0.012 | psoriasis | PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasi... | BeFree,GAD,LHGDN | 25923216 | Detail |
| 0.003 | purpura | NA | LHGDN | Detail | |
| <0.001 | Henoch-Schoenlein purpura | NA | BeFree | Detail | |
| <0.001 | rhabdomyosarcoma | NA | BeFree | Detail | |
| 0.005 | Rheumatism | NA | BeFree,GAD | Detail | |
| <0.001 | rheumatic heart disease | Influence of protein tyrosine phosphatase gene (PTPN22) polymorphisms on rheumat... | BeFree | 25273327 | Detail |
| 0.010 | systemic scleroderma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Dermatologic disorders | NA | GAD | Detail | |
| 0.001 | ankylosing spondylitis | Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility. | BeFree | 25755798 | Detail |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| <0.001 | synovitis | NA | BeFree | Detail | |
| 0.002 | Takayasu Arteritis | NA | GAD | Detail | |
| 0.002 | thrombocytopenia | NA | GAD | Detail | |
| 0.008 | Thyroid Diseases | NA | BeFree,GAD,LHGDN | Detail | |
| 0.001 | thyroiditis | NA | BeFree | Detail | |
| 0.006 | tuberculosis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Tuberculosis, Pulmonary | NA | BeFree,GAD | Detail | |
| 0.003 | Turner syndrome | NA | BeFree,GAD | Detail | |
| <0.001 | Uterine Fibroids | PTPN22 and uterine leiomyomas. | BeFree | 25541531 | Detail |
| 0.003 | anterior uveitis | NA | BeFree,GAD | Detail | |
| 0.003 | Uveomeningoencephalitic Syndrome | NA | BeFree,GAD | Detail | |
| <0.001 | vasculitis | NA | BeFree | Detail | |
| 0.136 | vitiligo | NA | BeFree,GAD,GWASCAT,LHGDN | Detail | |
| <0.001 | palindromic rheumatism | NA | BeFree | Detail | |
| 0.005 | Premature Birth | NA | GAD | Detail | |
| 0.002 | retinal vasculitis | NA | GAD | Detail | |
| <0.001 | allergic asthma | NA | BeFree | Detail | |
| 0.005 | Autoimmune thyroid disease | NA | BeFree,GAD | Detail | |
| 0.001 | Diabetes, Autoimmune | The absence of autoimmunity-associated PTPN22 alleles was also demonstrated in l... | BeFree | 25896041 | Detail |
| <0.001 | Adult type dermatomyositis | NA | BeFree | Detail | |
| 0.002 | age related macular degeneration | NA | GAD | Detail | |
| 0.002 | Gonadal Dysgenesis, 45,X | NA | GAD | Detail | |
| 0.002 | Disease Progression | NA | GAD | Detail | |
| 0.003 | Psoriasis vulgaris | NA | BeFree,GAD | Detail | |
| <0.001 | Superficial ulcer | NA | BeFree | Detail | |
| <0.001 | Maturity onset diabetes mellitus in young | The frequency of PTPN22 polymorphisms in the MODY patients was similar to those ... | BeFree | 25896041 | Detail |
| <0.001 | Microscopic Polyangiitis | NA | BeFree | Detail | |
| 0.002 | prediabetes syndrome | NA | GAD | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Polyradiculoneuropathy, Chronic Inflammatory Demyelinating | NA | BeFree | Detail | |
| 0.003 | Immune thrombocytopenic purpura | NA | BeFree,GAD | Detail | |
| 0.027 | lupus erythematosus | Our objectives were to identify novel alternatively spliced forms of PTPN22 and ... | BeFree,GAD | 24433447 | Detail |
| <0.001 | Secondary antiphospholipid syndrome | Significant association of the PTPN22 T1858 allele (CT + TT vs.CC) and secondary... | BeFree | 24985973 | Detail |
| <0.001 | Granulomatosis | NA | BeFree | Detail | |
| 0.005 | Hashimoto Disease | NA | BeFree,GAD | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| 0.001 | Acute anterior uveitis | NA | BeFree | Detail | |
| <0.001 | Idiopathic Inflammatory Myopathies | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| <0.001 | Acute GVH disease | NA | BeFree | Detail | |
| 0.008 | autoimmune thyroiditis | NA | BeFree,GAD | Detail | |
| <0.001 | Acute coronary syndrome | Increased PTPN22 expression and defective CREB activation impair regulatory T-ce... | BeFree | 25814225 | Detail |
| <0.001 | Chronic inflammatory disorder | NA | BeFree | Detail | |
| 0.001 | Generalized vitiligo | NA | BeFree | Detail | |
| 0.002 | Sjogren's syndrome | NA | GAD | Detail | |
| <0.001 | Non-ST elevation (NSTEMI) myocardial infarction | Restoring CREB activity and silencing PTPN22 enhanced NSTEMI patients' ability t... | BeFree | 25814225 | Detail |
| <0.001 | Inflammatory polyarthritis | NA | BeFree | Detail | |
| 0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | NA | BeFree | Detail | |
| 0.003 | coronary artery disease | NA | BeFree,GAD | Detail | |
| 0.120 | temporal arteritis | NA | ORPHANET | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.003 | Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis | NA | BeFree,GAD | Detail | |
| 0.005 | Chronic ulcerative colitis | NA | GAD | Detail | |
| 0.120 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 | NA | UNIPROT | Detail | |
| 0.005 | granulomatosis with polyangiitis | NA | GAD,LHGDN | Detail | |
| 0.005 | Infection | NA | GAD,LHGDN | Detail | |
| 0.002 | Thymus Neoplasms | NA | GAD | Detail | |
| 0.012 | Addison Disease | NA | GAD,LHGDN | Detail | |
| 0.009 | alopecia areata | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Alzheimer's disease | NA | BeFree | Detail | |
| <0.001 | Anemia, Pernicious | NA | BeFree | Detail | |
| 0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.009 | arthritis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.009 | Arthritis, Psoriatic | PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasi... | BeFree,GAD,LHGDN | 25923216 | Detail |
| 0.524 | rheumatoid arthritis | ORs for associations with different HLA-DRB1 alleles, PTPN22 genotypes and smoki... | BeFree,CTD_human,GAD,GWASCAT,LHGDN,UNIPROT | 24812286 | Detail |
| 0.524 | rheumatoid arthritis | Non-HLA genes PTPN22, CDK6 and PADI4 are associated with specific autoantibodies... | BeFree,CTD_human,GAD,GWASCAT,LHGDN,UNIPROT | 25138370 | Detail |
| 0.524 | rheumatoid arthritis | A C-to-T single-nucleotide polymorphism (SNP) located at position 1858 of human ... | BeFree,CTD_human,GAD,GWASCAT,LHGDN,UNIPROT | 26019128 | Detail |
| 0.003 | atherosclerosis | NA | BeFree,GAD | Detail | |
| 0.003 | Bacterial Infections | NA | BeFree,GAD | Detail | |
| 0.011 | Behcet Syndrome | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.003 | brucellosis | NA | BeFree,GAD | Detail | |
| 0.003 | Candidiasis, Chronic Mucocutaneous | NA | LHGDN | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| After Bonferroni correction for multiple testing, both the homozygous and the heterozygous variant g... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| INS,UBASH3A, and IFIH1 were significantly associated with progression from IA to diabetes (HR=1.65, ... | DisGeNET | Detail |
| INS,UBASH3A, and IFIH1 were significantly associated with progression from IA to diabetes (HR=1.65, ... | DisGeNET | Detail |
| The frequency of PTPN22 polymorphisms in the MODY patients was similar to those in geographically ma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association analyses were performed for genes with a known influence on development of GD - TSHR, HL... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Polymorphisms in the inflammatory pathway genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1... | DisGeNET | Detail |
| We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... | DisGeNET | Detail |
| We genotyped the five SNPs (rs12760457, rs2797415, rs1310182, rs2476599, and rs3789604) of the PTPN2... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Considering the whole sample, a borderline association between PTPN22 and leiomyomas was observed: t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our objectives were to identify novel alternatively spliced forms of PTPN22 and to examine the expre... | DisGeNET | Detail |
| Our objectives were to identify novel alternatively spliced forms of PTPN22 and to examine the expre... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of PTPN22 rs2476601 and EGFR rs17337023 Gene polymorphisms and rheumatoid arthritis in Z... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a fu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Influence of protein tyrosine phosphatase gene (PTPN22) polymorphisms on rheumatic heart disease sus... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of PTPN22 polymorphsims and ankylosing spondylitis susceptibility. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| PTPN22 and uterine leiomyomas. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The absence of autoimmunity-associated PTPN22 alleles was also demonstrated in latent autoimmune dia... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The frequency of PTPN22 polymorphisms in the MODY patients was similar to those in geographically ma... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our objectives were to identify novel alternatively spliced forms of PTPN22 and to examine the expre... | DisGeNET | Detail |
| Significant association of the PTPN22 T1858 allele (CT + TT vs.CC) and secondary antiphospholipid sy... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Increased PTPN22 expression and defective CREB activation impair regulatory T-cell differentiation i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Restoring CREB activity and silencing PTPN22 enhanced NSTEMI patients' ability to generate Treg. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| PTPN22 is associated with susceptibility to psoriatic arthritis but not psoriasis: evidence for a fu... | DisGeNET | Detail |
| ORs for associations with different HLA-DRB1 alleles, PTPN22 genotypes and smoking were calculated s... | DisGeNET | Detail |
| Non-HLA genes PTPN22, CDK6 and PADI4 are associated with specific autoantibodies in HLA-defined subg... | DisGeNET | Detail |
| A C-to-T single-nucleotide polymorphism (SNP) located at position 1858 of human protein tyrosine pho... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs17337023 dbSNP
- Genome
- hg38
- Position
- chr1:113,813,811-113,871,753
- Variant Type
- snv
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