| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Hepatitis B virus, susceptibility to |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs75303005, rs149554130, rs2834167, rs45469692, rs112943706 |
RCV002501831 RCV003224691 RCV000018431 RCV002507194 RCV003224552 |
| IL10RB-related disorder |
Likely benign; Benign; Conflicting classifications of pathogenicity |
rs889875247, rs776206390, rs80027572, rs182073431, rs45545138, rs1058861, rs61735776, rs182875134, rs112943706 |
RCV003965840 RCV003964190 RCV003910322 RCV003950177 RCV003953159 RCV003953243 RCV003920776 RCV003902841 RCV003953626 |
| Inflammatory bowel disease |
Uncertain significance; Benign |
rs886057005, rs5843596, rs886057007 |
RCV000322001 RCV000278486 RCV000322612 RCV000372654 |
| Melanoma |
Uncertain significance |
rs45469692 |
RCV005901635 |
| Sarcoma |
Uncertain significance |
rs45469692 |
RCV005901634 |
| Uterine corpus endometrial carcinoma |
Uncertain significance |
rs45469692 |
RCV005901636 |
|
| Disease Name |
Relationship Type |
References |
| Acquired Immunodeficiency Syndrome |
Associate |
20976276 |
| Adenocarcinoma of Lung |
Associate |
27058892 |
| Adenomyosis |
Associate |
25337217 |
| Arthritis |
Associate |
22550014 |
| Arthritis Rheumatoid |
Associate |
24286242 |
| Autoimmune Diseases |
Associate |
24023707 |
| Behcet Syndrome |
Stimulate |
35455984 |
| Breast Neoplasms |
Associate |
36475797 |
| Carcinoma Non Small Cell Lung |
Associate |
37146414 |
| Cerebral Hemorrhage |
Associate |
40404687 |
| Cholelithiasis |
Associate |
39366640 |
| Colitis |
Associate |
19890111 |
| Colitis Ulcerative |
Associate |
24379584, 27350736 |
| Common Variable Immunodeficiency |
Associate |
18254984 |
| COVID 19 |
Associate |
33246355, 33604698, 33837377, 33949668, 34799557, 35255492, 36127160, 37085563, 37442134, 37497655 |
| Crohn Disease |
Associate |
22550014, 33595362 |
| Depressive Disorder |
Associate |
23852407 |
| Diabetes Mellitus Type 2 |
Associate |
39202464 |
| Disease |
Associate |
27302973 |
| Disseminated Intravascular Coagulation |
Associate |
35255492 |
| Down Syndrome |
Associate |
33260695 |
| Drug Hypersensitivity |
Associate |
39202464 |
| Elejalde Disease |
Associate |
35455984 |
| Endometriosis |
Stimulate |
24133578 |
| Enterocolitis |
Associate |
19890111 |
| Fatigue |
Associate |
23852407 |
| Graft vs Host Disease |
Inhibit |
16109775 |
| Graft vs Host Disease |
Associate |
19409109 |
| Heart Defects Congenital |
Associate |
33260695 |
| Heart Diseases |
Associate |
33260695 |
| Hepatitis B |
Associate |
16757563 |
| HIV Infections |
Associate |
20976276 |
| Inflammation |
Associate |
25056661, 26448050, 27665382, 39695715 |
| Inflammatory Bowel Disease 25 Autosomal Recessive |
Associate |
27350736, 36308662, 37503744 |
| Inflammatory Bowel Diseases |
Associate |
19890111, 27350736, 28785144, 31819956, 32925557, 36002022 |
| Leprosy |
Associate |
24578538 |
| Liver Failure |
Associate |
36308662 |
| Liver Failure Acute |
Associate |
36308662 |
| Lung Diseases |
Associate |
33246355 |
| Lupus Erythematosus Systemic |
Associate |
37511050 |
| Lymphoma B Cell |
Associate |
24089328, 26448050 |
| Lymphoma Large B Cell Diffuse |
Associate |
24089328 |
| Lymphoma Non Hodgkin |
Associate |
21418175 |
| Melanoma |
Associate |
20103601, 36475797 |
| Melanoma Cutaneous Malignant |
Associate |
19626699 |
| Myocardial Ischemia |
Associate |
40429759 |
| Narcolepsy |
Associate |
24204295, 32669953 |
| Neoplasms |
Associate |
24023707, 25056661, 35874683, 36475797, 39769247 |
| Neoplasms |
Inhibit |
27058892 |
| Obesity |
Associate |
35205336 |
| Ovarian Neoplasms |
Associate |
39972314 |
| Overweight |
Associate |
35205336 |
| Pancreatic Neoplasms |
Associate |
24419231, 38538250 |
| Pancreatic Neoplasms |
Stimulate |
33062039 |
| Polyps |
Associate |
37085563 |
| Post Acute COVID 19 Syndrome |
Inhibit |
37497655 |
| Primary Immunodeficiency Diseases |
Associate |
38644452 |
| Prostatic Hyperplasia |
Associate |
21532858 |
| Schizophrenia |
Inhibit |
30630651 |
| Thymus Neoplasms |
Associate |
39769247 |
|