| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs12720307, rs375746920 |
RCV005905440 RCV005903073 |
| Cervical cancer |
Benign |
rs10418513 |
RCV005905444 |
| Cholangiocarcinoma |
Likely benign; Benign |
rs34923070, rs12720253 |
RCV005919047 RCV005918128 |
| Gastric cancer |
Benign |
rs12720253 |
RCV005918126 |
| Hepatocellular carcinoma |
Benign |
rs10418513 |
RCV005905442 |
| Immunodeficiency |
Conflicting classifications of pathogenicity; Uncertain significance |
rs142642403, rs764267766 |
RCV000984870 RCV000984873 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs12720253 |
RCV005918125 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs10418513, rs189471343 |
RCV005905443 RCV005906159 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs10418513 |
RCV005905446 |
| Recurrent skin infections |
Conflicting classifications of pathogenicity; Uncertain significance |
rs142642403, rs764267766 |
RCV000984870 RCV000984873 |
| Sarcoma |
Benign |
rs10418513 |
RCV005905445 |
| Squamous cell carcinoma of the head and neck |
Conflicting classifications of pathogenicity |
rs747608147 |
RCV005902104 |
| Thyroid cancer, nonmedullary, 1 |
Conflicting classifications of pathogenicity |
rs747608147 |
RCV005902105 |
| TYK2-related disorder |
Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs142676100, rs376905742, rs763514629, rs774416670, rs774964740, rs1019896036, rs960841634, rs138742402, rs1039399074, rs1297456436, rs2512447992, rs1010813526, rs146786766, rs886054132, rs376427383, rs137904701, rs763629813, rs547478293, rs374268170, rs371832787 View all (5 more) |
RCV003898345 RCV003938744 RCV003958599 RCV003896021 RCV004747033 RCV003963713 RCV003903714 RCV003898685 RCV003403104 RCV003921394 RCV003896362 RCV003901678 RCV003409520 RCV003897747 RCV003945715 RCV003413607 RCV004746154 RCV003913077 RCV003978030 RCV003938480 |
| Uterine carcinosarcoma |
Benign |
rs12720253, rs12720307 |
RCV005918127 RCV005905441 |
| Uterine corpus endometrial carcinoma |
Likely benign; Benign |
rs115703737, rs34923070, rs12720253, rs10418513 |
RCV005917909 RCV005919048 RCV005918129 RCV005905447 |
| Virus-induced diabetes |
Benign; Uncertain significance |
rs17000730, rs2304258, rs17000728, rs2304259, rs891696485, rs953883300 |
RCV000508940 RCV000508700 RCV000508797 RCV000508748 RCV000508800 RCV000508843 |
|
| Disease Name |
Relationship Type |
References |
| Acne Vulgaris |
Associate |
29091937 |
| Acute erythroleukemia |
Associate |
10340405 |
| Adenoma Pleomorphic |
Associate |
27286739 |
| Alopecia Areata |
Associate |
34863853 |
| Alzheimer Disease |
Associate |
30478411 |
| Arthritis Juvenile |
Associate |
28990043 |
| Arthritis Psoriatic |
Associate |
22298274, 39684939 |
| Arthritis Rheumatoid |
Associate |
25849893, 33583939, 35470158 |
| Autoimmune Diseases |
Associate |
16239216, 25849893, 31961910, 33542028, 33583939, 34225445, 35482673, 35711568 |
| Breast Neoplasms |
Associate |
17934210, 22116632, 25104439 |
| Carcinoma Hepatocellular |
Associate |
31418417, 31485610 |
| Carcinoma Renal Cell |
Associate |
17573897, 17898043 |
| Cognitive Dysfunction |
Associate |
30478411 |
| Colitis Associated Neoplasms |
Associate |
36232773 |
| Colitis Ulcerative |
Associate |
36232773, 38102678 |
| Colonic Neoplasms |
Associate |
8530527 |
| Colorectal Neoplasms |
Associate |
22121102, 25541970, 29641532 |
| COVID 19 |
Associate |
33542028, 34823125, 35212764, 35339044, 35842705, 36292769, 36327221, 36672770, 36959416, 37020259, 38102678, 39237611 |
| Critical Illness |
Associate |
33307546 |
| Crohn Disease |
Associate |
19249008 |
| Dermatitis Atopic |
Associate |
17088085, 39684939 |
| Diabetes Mellitus |
Associate |
26288847, 28826655, 33799705 |
| Diabetes Mellitus Type 1 |
Associate |
19966805, 26288847, 28826655, 32476252, 33799705, 34225445, 34858326, 36289205 |
| Diabetes Mellitus Type 1 |
Inhibit |
37854597 |
| Diabetes Mellitus Type 2 |
Associate |
26288847, 33799705 |
| Down Syndrome |
Associate |
27472900 |
| Epstein Barr Virus Infections |
Associate |
29725107, 31961910 |
| Fibrosarcoma |
Associate |
7537214, 9305869, 9794795 |
| Gastrointestinal Neoplasms |
Associate |
38102678 |
| Head and Neck Neoplasms |
Associate |
35711568 |
| Hepatitis C Chronic |
Associate |
28704535 |
| Immune System Diseases |
Associate |
29304122 |
| Inflammation |
Associate |
25652333, 31356157, 32476252, 34225445, 37229810, 37588593, 37854597 |
| Inflammatory Bowel Diseases |
Associate |
25849893, 38102678 |
| Influenza Human |
Associate |
26288847, 28826655 |
| Insulin Resistance |
Associate |
33799705 |
| Interferon gamma receptor 1 deficiency |
Associate |
35708626 |
| Invasive Pneumococcal Disease Recurrent Isolated 2 |
Associate |
36094518 |
| Job Syndrome |
Associate |
17088085, 21300911, 28826655, 29725107 |
| Leprosy |
Associate |
28842327 |
| Leukemia Biphenotypic Acute |
Associate |
33260630 |
| Leukemia Myeloid Acute |
Associate |
18270328, 31350825 |
| Liver Cirrhosis Biliary |
Associate |
22961000 |
| Lung Neoplasms |
Associate |
24833526 |
| Lupus Erythematosus Cutaneous |
Associate |
19758313 |
| Lupus Erythematosus Discoid |
Associate |
19758313 |
| Lupus Erythematosus Systemic |
Associate |
15657875, 19442287, 19966805, 22046141, 25849893, 29059182, 29475858, 30777133, 31434951, 34419106, 35482673, 36327221 |
| Lymphohistiocytosis Hemophagocytic |
Associate |
38183241 |
| Lymphoma |
Associate |
25349176, 29504848 |
| Lymphoma B Cell |
Associate |
29725107 |
| Lymphopenia |
Associate |
29725107 |
| Lymphoproliferative Disorders |
Associate |
25349176 |
| Melanoma Cutaneous Malignant |
Associate |
29641532 |
| Microphthalmia Isolated 1 |
Associate |
36094518 |
| Multiple Sclerosis |
Associate |
19293837, 19865102, 19888296, 19966805, 22744673 |
| Multiple Trauma |
Associate |
40446056 |
| Mycobacterium Infections Nontuberculous |
Associate |
31961910 |
| Nasopharyngeal Carcinoma |
Associate |
37023940 |
| Neoplasm Metastasis |
Associate |
22116632, 34449498, 37023940 |
| Neoplasm Metastasis |
Stimulate |
33083484 |
| Neoplasms |
Associate |
16239216, 24833526, 29641532, 33260630, 34449498, 35711568, 35874683 |
| Neoplasms Squamous Cell |
Associate |
34449498 |
| Nephrotic Syndrome |
Associate |
22252769 |
| Neurofibrosarcoma |
Associate |
27875628 |
| Non alcoholic Fatty Liver Disease |
Stimulate |
25747354 |
| Obesity |
Inhibit |
25747354 |
| Personality Disorders |
Associate |
31418417 |
| Pneumonia |
Associate |
35212764 |
| Polycythemia Vera |
Associate |
16239216 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
26265185 |
| Primary Immunodeficiency Diseases |
Associate |
26162572, 29725107 |
| Prostatic Neoplasms |
Associate |
10660600, 29641532 |
| Prostatitis |
Associate |
10660600, 8650201 |
| Psoriasis |
Associate |
22298274, 26613086, 31972249, 35482673, 39684939 |
| Rectal Neoplasms |
Associate |
22121102 |
| Respiratory Tract Infections |
Associate |
35212764 |
| Scleroderma Systemic |
Associate |
34248934, 39684939 |
| Sezary Syndrome |
Associate |
27039262 |
| Sjogren's Syndrome |
Associate |
29504848, 35896530 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate |
35711568 |
| Stomach Neoplasms |
Associate |
32993565 |
| Stomach Neoplasms |
Stimulate |
33083484 |
| Streptococcal Infections |
Associate |
29091937 |
| Tertiary Lymphoid Structures |
Associate |
34449498 |
| Tuberculosis |
Associate |
31068474 |
| Tyrosine Kinase 2 Deficiency |
Inhibit |
29725107 |
| Tyrosine Kinase 2 Deficiency |
Associate |
29725107, 36094518 |
| Uveitis |
Associate |
33503442 |
| Uveitis Posterior |
Associate |
32707200 |
| Virus Diseases |
Associate |
36094518 |
|