| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs5744175 |
RCV005891020 |
| Cervical cancer |
Benign; Likely benign |
rs5744175 |
RCV005891021 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs5744175 |
RCV005891022 |
| Colon adenocarcinoma |
Benign; Likely benign |
rs5744175 |
RCV005891019 |
| Gastric cancer |
Benign; Likely benign; Uncertain significance |
rs5744175, rs201909983 |
RCV005891024 RCV005939263 |
| Legionnaire disease, susceptibility to |
protective; risk factor; Benign |
rs5744168, rs2072493 |
RCV000007037 RCV000007039 |
| Lung cancer |
Benign; Likely benign |
rs5744175 |
RCV005891027 |
| Melioidosis, resistance to |
protective; risk factor |
rs5744168 |
RCV000074501 |
| Sarcoma |
Benign; Likely benign |
rs5744175 |
RCV005891023 |
| Systemic lupus erythematosus, resistance to, 1 |
protective; risk factor |
rs5744168 |
RCV000007038 |
| Thymoma |
Benign; Likely benign |
rs5744175 |
RCV005891025 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
rs5744175 |
RCV005891026 |
| TLR5-related disorder |
Benign; risk factor; Likely benign |
rs2072493, rs142143294, rs5744174, rs779315333, rs756017329 |
RCV003974802 RCV003907044 RCV003974686 RCV003931763 RCV003926878 |
|
| Disease Name |
Relationship Type |
References |
| Acute Kidney Injury |
Associate |
37273234 |
| Adenoma |
Associate |
35636682 |
| Agnosia |
Associate |
28856441 |
| Aicardi Syndrome |
Associate |
26888781 |
| Alzheimer Disease |
Associate |
17652175 |
| Appendicitis |
Associate |
24336024 |
| Arthritis Rheumatoid |
Associate |
21179534, 22661088, 26440629, 31376255, 33482886, 37796367 |
| Arthritis Rheumatoid |
Stimulate |
31396542 |
| Asthma |
Associate |
29486764 |
| Astrocytoma |
Associate |
29912993 |
| Atherosclerosis |
Associate |
37339167 |
| Autoimmune Diseases |
Associate |
18796002 |
| Bacteremia |
Associate |
28475641 |
| Behcet Syndrome |
Associate |
32756992 |
| Brachydactyly Type D |
Associate |
28504607 |
| Breast Neoplasms |
Associate |
24466264 |
| Breast Neoplasms |
Inhibit |
31789409 |
| Bronchiectasis |
Stimulate |
18684966 |
| Cancer Pain |
Associate |
30610800 |
| Carcinogenesis |
Associate |
28404962 |
| Carcinoma Adenoid Cystic |
Associate |
26888781 |
| Carcinoma Squamous Cell |
Associate |
31238894 |
| Chronic Periodontitis |
Associate |
15664906 |
| Colitis Ulcerative |
Associate |
22185629, 25789623, 26698117, 32322884 |
| Colitis Ulcerative |
Inhibit |
35546982 |
| Colonic Polyps |
Associate |
33255933 |
| Colorectal Neoplasms |
Associate |
36649244 |
| Communicable Diseases |
Associate |
24771328 |
| Coronary Artery Disease |
Associate |
39614436 |
| COVID 19 |
Associate |
37261353, 37823415 |
| Crohn Disease |
Associate |
16439468, 18796002, 22275320, 23593463, 24901824, 26698117 |
| Cystic Disease Of Lung |
Associate |
18684966 |
| Cystic Fibrosis |
Stimulate |
18684966 |
| Cystic Fibrosis |
Associate |
21068401 |
| Cystic Fibrosis |
Inhibit |
24098711 |
| Cystitis |
Associate |
19543401 |
| Cytokine Release Syndrome |
Associate |
24098711 |
| Death |
Associate |
28475641 |
| Dermatitis Atopic |
Associate |
22710427 |
| Drug Hypersensitivity |
Associate |
26376485 |
| Duodenal Ulcer |
Associate |
25995217 |
| Dysentery |
Associate |
30323026 |
| Food Hypersensitivity |
Inhibit |
35096267 |
| Glomerulonephritis IGA |
Associate |
27818460 |
| Graft vs Host Disease |
Associate |
22703024, 23022388 |
| Graft vs Host Disease |
Stimulate |
24184334 |
| Granulomatous Disease Chronic |
Associate |
14688376 |
| Helicobacter Infections |
Associate |
15147355, 18809506, 25995217, 28404962, 34420402 |
| IgA Vasculitis |
Associate |
27818460 |
| Infections |
Associate |
14623910, 16027372, 19447460, 21573018, 22855713 |
| Infections |
Stimulate |
22306269 |
| Inflammation |
Associate |
14623910, 15388489, 21048961, 21068401, 21573018, 21952587, 22185629, 22994872, 24098711, 25611816, 25995217, 26220208, 28404962, 36645307, 37823415, 39614436 View all (1 more) |
| Inflammation |
Stimulate |
36969199 |
| Inflammatory Bowel Diseases |
Associate |
24901824, 36847442 |
| Intestinal Atresia |
Associate |
28246611 |
| Intestinal Neoplasms |
Associate |
31467388 |
| Irritable Bowel Syndrome |
Stimulate |
28246611 |
| Keratitis Ichthyosis Deafness Syndrome |
Associate |
30150638 |
| Laryngeal Neoplasms |
Associate |
21478107 |
| Legionnaires' Disease |
Associate |
14623910 |
| Leukemia Myeloid |
Associate |
29651431 |
| Leukemia Myeloid Acute |
Associate |
29651431 |
| Lichenoid Eruptions |
Associate |
28715461 |
| Lupus Erythematosus Systemic |
Associate |
16027372, 19843090, 35603218 |
| Lupus Erythematosus Systemic |
Stimulate |
31396542 |
| Lupus Nephritis |
Associate |
28763101 |
| Lupus Nephritis |
Stimulate |
40011954 |
| Lupus Vasculitis Central Nervous System |
Associate |
40011954 |
| Lymphoma Follicular |
Associate |
24771328 |
| Lymphoma Large B Cell Diffuse |
Associate |
34913612 |
| Lymphoma Mantle Cell |
Associate |
27123851 |
| Macrophage Activation Syndrome |
Associate |
24098711 |
| Melioidosis |
Associate |
28475641 |
| Mucocutaneous Lymph Node Syndrome |
Associate |
34290221 |
| Multiple Myeloma |
Associate |
23593278 |
| Multiple Sclerosis |
Associate |
19664140 |
| Nasopharyngeal Carcinoma |
Associate |
31238894 |
| Neoplasm Metastasis |
Associate |
28856441, 30203045 |
| Neoplasms |
Associate |
17587322, 23287987, 24466264, 26220208, 28856441, 29523766, 31238894, 35636682, 35937402 |
| Obesity |
Associate |
25394788, 25611816, 33487124 |
| Optic Neuritis |
Associate |
36969199 |
| Osteoarthritis |
Associate |
22661088 |
| Overweight |
Stimulate |
25394788 |
| Pain |
Associate |
33573686 |
| Papillomavirus Infections |
Associate |
29930251 |
| Peptic Ulcer |
Associate |
34420402 |
| Plaque Atherosclerotic |
Associate |
18837796 |
| Pneumonia |
Associate |
14623910 |
| Polyps |
Inhibit |
33255933 |
| Proteinuria |
Associate |
27818460 |
| Pulmonary Disease Chronic Obstructive |
Inhibit |
22855713 |
| Pyelonephritis |
Associate |
19543401 |
| Respiratory Distress Syndrome |
Associate |
37261353 |
| Respiratory Tract Infections |
Associate |
29486764 |
| Rhinitis Allergic |
Associate |
28228119 |
| Sciatica |
Associate |
33535986, 33573686 |
| Scleroderma Systemic |
Associate |
31396542 |
| Sepsis |
Inhibit |
27056672 |
| Sepsis |
Associate |
37261353 |
| Sezary Syndrome |
Stimulate |
21951393 |
| Sjogren's Syndrome |
Inhibit |
27943374 |
| Spondylitis Ankylosing |
Stimulate |
20952467 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
19740321, 23287987, 25941114, 28856441, 30794027 |
| Stickler syndrome type 1 |
Stimulate |
22306269 |
| Stomach Diseases |
Associate |
21455638 |
| Stomach Neoplasms |
Associate |
28404962, 31467388 |
| Synovitis |
Associate |
33377396 |
| Uterine Cervical Dysplasia |
Associate |
17587322 |
| Vaginosis Bacterial |
Associate |
33199356 |
|