| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cholangiocarcinoma |
Likely benign |
rs73281548 |
RCV005919353 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Likely benign |
rs73281548 |
RCV005919355 |
| Familial pancreatic carcinoma |
Likely benign |
rs73281548 |
RCV005919349 |
| HNRNPA2B1-related disorder |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs200804634, rs903178880, rs766034699, rs200301894, rs756044930, rs139270847, rs369903398, rs762387902, rs1292040489, rs1193919522, rs2535717956, rs756219376, rs1783642018, rs772119326, rs142061533, rs144309126, rs370050080, rs768943063, rs200929422, rs143134057, rs181705411, rs199606705, rs191937523, rs760203875, rs760373015 View all (10 more) |
RCV004754761 RCV003965897 RCV003966002 RCV003921280 RCV003893080 RCV003923644 RCV003895932 RCV004754859 RCV003898523 RCV003400040 RCV003408370 RCV003894365 RCV003934378 RCV003968924 RCV003945659 RCV003980270 RCV004754574 RCV003920452 RCV003938341 RCV003967919 RCV003965775 RCV004754595 RCV003915799 RCV003962856 RCV003933196 |
| Lymphoma |
Likely benign |
rs73281548 |
RCV005919352 |
| Malignant lymphoma, large B-cell, diffuse |
Likely benign |
rs73281548 |
RCV005919350 |
| Melanoma |
Uncertain significance |
rs370807816 |
RCV005902060 |
| Myopathy, autophagic vacuolar, infantile-onset |
Conflicting classifications of pathogenicity |
rs2535701576 |
RCV004587484 |
| Nonpapillary renal cell carcinoma |
Likely benign |
rs73281548 |
RCV005919348 |
| Sarcoma |
Likely benign |
rs73281548 |
RCV005919351 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs73281548 |
RCV005919354 |
|
| Disease Name |
Relationship Type |
References |
| AA amyloidosis |
Associate |
28542905, 35637421 |
| Adenocarcinoma of Lung |
Stimulate |
32086933 |
| Adenocarcinoma of Lung |
Associate |
35343834, 35529270, 36061307 |
| Adrenocortical Carcinoma |
Associate |
33746977, 35529270 |
| Alzheimer Disease |
Associate |
40183343 |
| Amyotrophic Lateral Sclerosis |
Associate |
29358076, 35355568 |
| Bone Diseases |
Associate |
36451863 |
| Breast Neoplasms |
Stimulate |
31263129 |
| Breast Neoplasms |
Associate |
34273466, 35529270 |
| Carcinogenesis |
Associate |
37308993, 38070488, 8631886 |
| Carcinoma Hepatocellular |
Associate |
29774077, 35529270 |
| Carcinoma Hepatocellular |
Stimulate |
32631107 |
| Carcinoma Non Small Cell Lung |
Associate |
23658645, 26919236, 29509247, 32246902, 34812534, 36262980, 37308993 |
| Carcinoma Renal Cell |
Associate |
33628845 |
| Carcinoma Small Cell |
Associate |
12871776 |
| Carcinoma Squamous Cell |
Associate |
10874220, 35529270 |
| Cholangiocarcinoma |
Associate |
39615627 |
| Colorectal Neoplasms |
Associate |
33213490, 35279145, 39810713 |
| Colorectal Neoplasms |
Stimulate |
37716979 |
| COVID 19 |
Associate |
36460278 |
| Crohn Disease |
Associate |
36595818 |
| Depression Postpartum |
Associate |
34856750 |
| Diabetes Mellitus Type 1 |
Stimulate |
36457997 |
| Distal myopathy Nonaka type |
Associate |
34291734 |
| Endocrine System Diseases |
Associate |
31263129, 34273466 |
| Endometrial Neoplasms |
Associate |
34347888, 35731272 |
| Endometriosis |
Associate |
33232273, 36672827 |
| Esophageal Neoplasms |
Associate |
35529270 |
| Esophageal Squamous Cell Carcinoma |
Associate |
10874220, 34054840 |
| Fragile X Syndrome |
Associate |
17716999 |
| Frontotemporal Dementia |
Associate |
29358076 |
| Gallbladder Neoplasms |
Associate |
37142981 |
| Gastrointestinal Neoplasms |
Associate |
35794744 |
| Glioblastoma |
Associate |
35558067, 36810326 |
| Glioma |
Associate |
10441480, 29547514, 34432221, 38070488 |
| Head and Neck Neoplasms |
Associate |
32669614 |
| Heredodegenerative Disorders Nervous System |
Associate |
30279180 |
| Hypoglycemia |
Associate |
10441480 |
| Hypoxia |
Inhibit |
10441480 |
| Hypoxia |
Associate |
36810326 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate |
36312597 |
| Inclusion Body Myopathy With Early Onset Paget Disease And Frontotemporal Dementia |
Associate |
30279180 |
| Inflammation |
Associate |
36312597 |
| Kidney Neoplasms |
Associate |
32826868 |
| Lipoma |
Associate |
36870688 |
| Liver Neoplasms |
Associate |
28542905, 29358076 |
| Lung Neoplasms |
Associate |
10874220, 12871776, 19609729, 20716340, 24246049, 36262980 |
| Lung Neoplasms |
Stimulate |
19414390, 8631886 |
| Lupus Erythematosus Systemic |
Associate |
16859514 |
| Motor Neuron Disease |
Associate |
36515702 |
| Multiple Myeloma |
Associate |
28086949, 33649796, 33794982, 36177774, 36401285, 36451863 |
| Muscular Dystrophies Limb Girdle |
Associate |
30279180 |
| Muscular Dystrophy Duchenne |
Associate |
25662218 |
| Myocardial Infarction |
Associate |
36061306 |
| Myositis Inclusion Body |
Associate |
26785370 |
| Neoplasm Metastasis |
Associate |
29774077, 37142981, 37308993, 37716979 |
| Neoplasms |
Associate |
10521432, 10874220, 18401453, 18519039, 19934309, 24823909, 32485038, 32915499, 33273988, 33794982, 35529270, 35794744, 36451863, 37308993, 37716979, 39268079, 39810713 View all (2 more) |
| Neoplasms |
Inhibit |
21321999 |
| Neoplasms |
Stimulate |
38070488 |
| Neoplasms Glandular and Epithelial |
Associate |
8631886 |
| Neuroblastoma |
Stimulate |
21321999 |
| Neuroblastoma |
Associate |
38331110 |
| Neurodegenerative Diseases |
Associate |
25375143, 34291734 |
| Neuronal intranuclear inclusion disease |
Associate |
36621630 |
| Osteitis Deformans |
Associate |
35355568 |
| Ovarian Neoplasms |
Associate |
34187307, 35343831, 36259156, 36670423 |
| Prion Diseases |
Associate |
28542905 |
| Prostatic Neoplasms |
Associate |
24823909, 30307468, 32710725, 33273988, 37208565 |
| Prostatic Neoplasms Castration Resistant |
Associate |
32485038 |
| Pulmonary Disease Chronic Obstructive |
Associate |
36808722 |
| Reperfusion Injury |
Associate |
39341981 |
| Small Cell Lung Carcinoma |
Associate |
19414390 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
10874220, 37539565 |
| Stomach Neoplasms |
Associate |
20440860, 26805816, 35529270, 37256823 |
| Urethral Neoplasms |
Associate |
36189296 |
| Uterine Cervical Neoplasms |
Associate |
24013563 |
|