| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs61753379 |
RCV005901543 |
| Cholangiocarcinoma |
Benign |
rs61753379 |
RCV005901549 |
| Familial cancer of breast |
Uncertain significance; Conflicting classifications of pathogenicity |
rs763294359, rs373016534 |
RCV005930366 RCV005929409 |
| Gastric cancer |
Uncertain significance |
rs750282364 |
RCV005939284 |
| Hepatocellular carcinoma |
Benign |
rs61753379 |
RCV005901544 |
| HER2 positive breast carcinoma |
Conflicting classifications of pathogenicity |
rs61756352 |
RCV002466514 |
| Hereditary renal cell carcinoma |
Benign |
rs77440336 |
RCV000678680 |
| Lung cancer |
Benign |
rs373961891 |
RCV005932028 |
| Sarcoma |
Benign |
rs61753379 |
RCV005901546 |
| Thymoma |
Benign |
rs61753379 |
RCV005901548 |
| TRAP1-related disorder |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs769027196, rs147617137, rs369893908, rs115100713, rs116729116, rs376506055, rs368889500, rs776393611, rs775141873, rs774864487, rs769430278, rs774842639, rs995881750, rs759452840, rs745722743, rs376485209, rs2548299016, rs777816870, rs200472693, rs562153382, rs377222539, rs565099748, rs373984996, rs373510798, rs61756352, rs61756351, rs113476582, rs138615105, rs187640053 View all (14 more) |
RCV003892986 RCV003978884 RCV003916282 RCV003951107 RCV003916619 RCV003973576 RCV004747174 RCV003963544 RCV003434655 RCV003420529 RCV003411975 RCV003392936 RCV003394329 RCV003981776 RCV003894166 RCV003902183 RCV003982448 RCV003977162 RCV003913918 RCV003959824 RCV003964073 RCV003947002 RCV003971483 RCV003969452 RCV003925399 RCV003918111 RCV003980299 RCV003913001 RCV003906135 |
| Uterine carcinosarcoma |
Benign |
rs61753379 |
RCV005901547 |
| Uterine corpus endometrial carcinoma |
Benign |
rs61753379 |
RCV005901550 |
| Uveal melanoma |
Benign |
rs61753379 |
RCV005901545 |
| VATER association |
Uncertain significance |
rs769418685 |
RCV005414676 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
32092740 |
| Adenoma |
Stimulate |
28177905 |
| Breast Neoplasms |
Associate |
23735188, 33145341 |
| Carcinogenesis |
Associate |
23747254, 26464709, 27662365 |
| Carcinoma in Situ |
Stimulate |
28177905 |
| Carcinoma Non Small Cell Lung |
Associate |
24567527 |
| Carcinoma Ovarian Epithelial |
Associate |
26408177 |
| Chronic Pain |
Associate |
26022780 |
| Colitis Ulcerative |
Associate |
20828217 |
| Colitis Ulcerative |
Stimulate |
25493016 |
| Colonic Neoplasms |
Associate |
24113185, 36113636, 36273131 |
| Colorectal Neoplasms |
Associate |
21979464, 23139614, 24113185, 24567527, 24962791, 25493016, 26071104, 26084290, 27662365, 28088229, 28177905, 31878280, 33025742, 33065966, 35543151, 36113636, 37796715, 39210159 View all (3 more) |
| Conversion Disorder |
Associate |
26022780 |
| Esophageal Motility Disorders |
Associate |
26022780 |
| Fatigue |
Associate |
26022780 |
| Genetic Diseases Inborn |
Associate |
30887706 |
| Glycosuria Renal |
Associate |
34338422 |
| Hereditary Autoinflammatory Diseases |
Associate |
31882397 |
| Hypoxia |
Inhibit |
31878280 |
| Hypoxia |
Associate |
35543151 |
| Hypoxia Brain |
Associate |
35543151 |
| Inflammation |
Associate |
27206315 |
| Kidney Diseases |
Associate |
28115289 |
| Kidney Neoplasms |
Associate |
26722505 |
| Lymphatic Metastasis |
Stimulate |
23139614, 26408177 |
| Lymphatic Metastasis |
Associate |
26722505, 32092740 |
| Lymphoma |
Inhibit |
35572591 |
| Lymphopenia |
Associate |
39224595 |
| Michelin tire baby syndrome |
Associate |
26022780 |
| Nasopharyngeal Carcinoma |
Associate |
18570662 |
| Neoplasm Metastasis |
Inhibit |
27977010 |
| Neoplasm Metastasis |
Associate |
37165028 |
| Neoplasms |
Associate |
18570662, 23735188, 24113185, 24962791, 26071104, 26408177, 26464709, 27662365, 27977010, 30260431, 30680959, 31878280, 33025742, 33065966, 34906113, 35543151, 36113636, 37165028, 39210159 View all (4 more) |
| Neoplasms |
Stimulate |
23747254, 26084290, 27206315 |
| Neoplasms |
Inhibit |
28177905, 35393510, 37487647 |
| Opportunistic Infections |
Associate |
39224595 |
| Osteoarthritis |
Associate |
18784066 |
| Ovarian Neoplasms |
Associate |
22978347, 27206315 |
| Ovarian Neoplasms |
Inhibit |
27977010 |
| Pain |
Associate |
26022780 |
| Personality Disorders |
Associate |
37165028 |
| Pneumonia Pneumocystis |
Associate |
39224595 |
| Small Cell Lung Carcinoma |
Associate |
26464709 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit |
34906113 |
| Tertiary Lymphoid Structures |
Associate |
28088229, 31878280 |
| VACTERL association |
Associate |
30887706, 34338422 |
| VATER association |
Associate |
30887706, 34338422 |
|