| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Bone Paget disease |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs146553439, rs1805033, rs7238731, rs1805034, rs8092336, rs148185533, rs886054081, rs886054088, rs886054099, rs150401931, rs552069161, rs142942284, rs35211496, rs61751992, rs886054089, rs886054093, rs78622775 View all (2 more) |
RCV000372728 RCV000276795 RCV000370833 RCV000338163 RCV000344991 RCV000350950 RCV000356202 RCV000297001 RCV000357519 RCV000259433 RCV000348145 RCV000291400 RCV000269060 RCV000261260 RCV000342238 RCV000354253 RCV000326341 RCV000342996 |
| Disorder of bone |
Benign; Likely benign; Uncertain significance |
rs1805034, rs117028614, rs35211496 |
RCV006268698 RCV006268738 RCV006268737 |
| Familial cancer of breast |
Conflicting classifications of pathogenicity |
rs201402594 |
RCV005904495 |
| Lung cancer |
Uncertain significance |
rs761595131 |
RCV005932027 |
| Malignant tumor of esophagus |
Uncertain significance |
rs747510807 |
RCV005926474 |
| Osteopetrosis |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs146553439, rs1805033, rs7238731, rs1805034, rs8092336, rs148185533, rs886054081, rs886054088, rs886054099, rs150401931, rs552069161, rs142942284, rs35211496, rs61751992, rs886054089, rs886054093, rs78622775 View all (2 more) |
RCV000278264 RCV000327121 RCV000312036 RCV000280881 RCV000306408 RCV000390248 RCV000275612 RCV000398720 RCV000265374 RCV000317703 RCV000400681 RCV000320710 RCV000363657 RCV000318919 RCV000284808 RCV000408052 RCV000383381 RCV000400883 |
| Thyroid cancer, nonmedullary, 1 |
Conflicting classifications of pathogenicity |
rs201402594 |
RCV005904496 |
| TNFRSF11A-related disorder |
Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign |
rs1302537567, rs369489962, rs139968917, rs200750073, rs753971282, rs182849554, rs771249524, rs148185533, rs34966542, rs1463920572, rs776173779, rs367884859, rs763654840, rs375618864, rs1600407119, rs1911584392, rs886054082, rs138204772, rs781554550, rs34945627 View all (5 more) |
RCV003913485 RCV004731196 RCV003948815 RCV003948858 RCV003933519 RCV004753533 RCV003955101 RCV003940032 RCV003967769 RCV003402294 RCV003414189 RCV003948997 RCV003893546 RCV003982603 RCV003911767 RCV003954633 RCV003409519 RCV003912369 RCV003947918 RCV003905852 |
|
| Disease Name |
Relationship Type |
References |
| Acro Osteolysis |
Associate |
36740137 |
| Adenocarcinoma |
Associate |
34724890 |
| Adenocarcinoma of Lung |
Associate |
35437508, 37543671 |
| Adenocarcinoma of Lung |
Stimulate |
39273449 |
| Agammaglobulinemia |
Associate |
18606301, 22271396 |
| Ameloblastoma |
Associate |
21643971 |
| Amyotrophic Lateral Sclerosis |
Associate |
21659498 |
| Aortic Valve Calcification of |
Associate |
28246602 |
| Aortic Valve Stenosis |
Associate |
28246602 |
| Aphasia Broca |
Associate |
36818472 |
| Arthritis Psoriatic |
Stimulate |
28619088 |
| Arthritis Rheumatoid |
Associate |
18839399, 27054952, 27572279, 32815001 |
| Atrial Fibrillation |
Associate |
22001292 |
| Atrial Remodeling |
Associate |
22001292 |
| Bone Diseases |
Associate |
25063546, 26617755, 26781475, 40222603 |
| Bone Diseases Metabolic |
Associate |
22370887 |
| Bone Neoplasms |
Associate |
17982618 |
| Bone Resorption |
Associate |
16936272, 16960694 |
| Breast Neoplasms |
Associate |
21559440, 22824341, 26781475, 27191503, 27893411, 28577080, 28758931, 29932437, 35697931 |
| Calcinosis |
Associate |
16449517 |
| Calcinosis Cutis |
Stimulate |
21407234 |
| Carcinogenesis |
Associate |
34570303 |
| Carcinoma Giant Cell |
Associate |
35697931 |
| Carcinoma Ovarian Epithelial |
Associate |
35163671 |
| Carcinoma Renal Cell |
Associate |
26528707 |
| Cardiomegaly |
Associate |
12929927 |
| Cardiovascular Diseases |
Associate |
22001292 |
| Cataract |
Associate |
32180680 |
| Cognition Disorders |
Associate |
35858838 |
| Colonic Neoplasms |
Associate |
33985413, 36646765 |
| Colorectal Neoplasms |
Associate |
34541005 |
| COVID 19 |
Associate |
36818472 |
| Cysts |
Associate |
21683340 |
| Delayed Emergence from Anesthesia |
Associate |
24081232 |
| Dentigerous Cyst |
Associate |
21683340 |
| Diabetes Mellitus |
Associate |
21659498 |
| Disease |
Associate |
11771666, 31923705 |
| Dysosteosclerosis |
Associate |
31163101 |
| Edema |
Associate |
12568416 |
| Endometrial Neoplasms |
Associate |
29932437 |
| Esophageal Neoplasms |
Associate |
25019155, 25973136 |
| Esophageal Squamous Cell Carcinoma |
Associate |
25019155, 25973136 |
| Expansile Bone Lesions |
Associate |
31923705, 36740137 |
| Familial Paget's disease of bone |
Associate |
36740137 |
| Femur Head Necrosis |
Associate |
26617755 |
| Fibrous Dysplasia Polyostotic |
Associate |
21987421 |
| Frailty |
Associate |
37254268 |
| Giant Cell Tumor of Tendon Sheath |
Associate |
31189751 |
| Glioma |
Associate |
22787434 |
| Hearing Loss |
Associate |
12568416, 12929927, 31923705, 40222603 |
| Heart Failure Diastolic |
Associate |
34685778 |
| Heart Valve Diseases |
Associate |
16449517, 27003233 |
| Hip Injuries |
Inhibit |
21760914 |
| Hip Injuries |
Associate |
21760914 |
| Hodgkin Disease |
Associate |
11675352 |
| Hypercalcemia |
Associate |
11781248, 12929927, 22271396, 31923705, 40222603 |
| Hyperostosis corticalis deformans juvenilis |
Associate |
11771666, 12929927, 20564239, 21987421, 25063546, 31923705, 32298837 |
| Immunologic Deficiency Syndromes |
Associate |
18606301 |
| Inflammation |
Associate |
27003233, 34685778 |
| Iron Overload |
Associate |
37532711 |
| Kidney Diseases |
Associate |
25478860 |
| Kidney Neoplasms |
Associate |
37407978 |
| Leukemia Lymphoma Adult T Cell |
Associate |
11781248 |
| Liver Cirrhosis Biliary |
Associate |
27054952 |
| Lymphatic Metastasis |
Stimulate |
25973136 |
| Lymphoma Large B Cell Diffuse |
Associate |
19412164 |
| Melanoma |
Associate |
21407234 |
| Monckeberg Medial Calcific Sclerosis |
Associate |
21659498 |
| Multiple Myeloma |
Associate |
26762414, 36251145 |
| Musculoskeletal Diseases |
Associate |
12929927 |
| Myalgia |
Associate |
28619088 |
| Myasthenia Gravis |
Associate |
25643325, 35074870 |
| Neoplasm Metastasis |
Associate |
21559440, 26528707, 27191503, 28577080 |
| Neoplasms |
Associate |
21559440, 23369128, 31992773, 35163671, 39273449 |
| Neoplasms |
Stimulate |
26781475 |
| Obesity |
Associate |
16960694 |
| Oculocerebrorenal Syndrome |
Associate |
31923705 |
| Odontogenic Cysts |
Associate |
21643971, 33768738 |
| Osteitis Deformans |
Associate |
11149487, 11473345, 11742440, 12929927, 19578385, 19925894, 20436471, 20564239, 21623375, 21987421, 31923705 |
| Osteoarthritis Knee |
Associate |
30921190 |
| Osteolysis |
Associate |
21643971, 21659498, 33768738 |
| Osteonecrosis |
Associate |
25820558, 26617755 |
| Osteopetrosis |
Associate |
18606301, 20564239, 22271396, 24108692, 32097281, 34049530 |
| Osteopetrosis Autosomal Recessive 1 |
Associate |
19507210 |
| Osteopetrosis Autosomal Recessive 7 |
Associate |
31163101 |
| Osteopetrosis mild autosomal recessive form |
Associate |
18606301, 22271396, 28816234 |
| Osteoporosis |
Associate |
22370887, 34049530 |
| Osteoporotic Fractures |
Associate |
22370887 |
| Osteosarcoma |
Associate |
17982618, 38468522 |
| Pain |
Associate |
12568416 |
| Polyostotic osteolytic dysplasia hereditary expansile |
Associate |
11555792, 11742440, 11771666, 12568416, 12929927, 20564239, 31923705, 36740137 |
| Radicular Cyst |
Associate |
21643971 |
| Root Resorption |
Associate |
40222603 |
| Stomach Neoplasms |
Associate |
30015970, 35421138 |
| Tachycardia Sinoatrial Nodal Reentry |
Stimulate |
34737220 |
| Tendinopathy |
Associate |
40222603 |
| Tibial Neuropathy |
Associate |
12568416 |
| Tooth Loss |
Associate |
12929927, 31923705 |
| Transfusion Reaction |
Associate |
35858838, 37532711 |
| Uterine Cervical Dysplasia |
Stimulate |
25973136 |
| Uterine Cervical Neoplasms |
Associate |
32616510 |
| Vascular Calcification |
Associate |
21659498 |
| Weight Loss |
Associate |
24081232 |
| Wiskott Aldrich Syndrome |
Associate |
32097281 |
| Zellweger Syndrome |
Associate |
21987421 |
|