| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Likely benign; Benign |
rs146439186, rs35120165 |
RCV005933437 RCV005911697 |
| Cervical cancer |
Likely benign; Benign |
rs149807717, rs35120165 |
RCV005932958 RCV005911698 |
| Clear cell carcinoma of kidney |
Likely benign; Benign |
rs146439186, rs35120165 |
RCV005933438 RCV005911699 |
| Colon adenocarcinoma |
Benign |
rs35120165 |
RCV005911696 |
| Gastric cancer |
Likely benign; Benign; Conflicting classifications of pathogenicity |
rs149807717, rs35120165, rs145697891 |
RCV005932959 RCV005911701 RCV005902981 |
| Long QT syndrome |
Likely benign |
rs796052184 |
RCV000190194 |
| MKI67-related disorder |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs2493525389, rs2493543379, rs1394710898, rs143309375, rs145678978, rs2493519489, rs1852605659, rs146439186, rs141496223, rs1852776470, rs141904662, rs2782871 |
RCV003406191 RCV003397457 RCV003405923 RCV003913909 RCV003924615 RCV003939498 RCV003951787 RCV003969242 RCV003934178 RCV003969565 RCV003933293 RCV003925940 |
| Sarcoma |
Benign |
rs35120165 |
RCV005911700 |
| Thyroid cancer, nonmedullary, 1 |
Likely benign |
rs146439186 |
RCV005933440 |
| Uterine corpus endometrial carcinoma |
Benign |
rs35120165 |
RCV005911702 |
| Uveal melanoma |
Likely benign |
rs146439186 |
RCV005933439 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
29949537 |
| Adenocarcinoma of Lung |
Associate |
32578582, 33097805, 33187219, 35810236, 36147635 |
| Arthritis Rheumatoid |
Associate |
34768991 |
| Atherosclerosis |
Associate |
28195197 |
| Breast Neoplasms |
Associate |
27220750, 27389414, 28045625, 28051275, 28490348, 29858579, 30097312, 30342538, 31947762, 34050358, 34146382, 34371382, 34408238, 37759508, 39663527 |
| Carcinogenesis |
Associate |
24098334 |
| Carcinoma Hepatocellular |
Associate |
22912812, 28700999, 34724892 |
| Carcinoma Non Small Cell Lung |
Associate |
31775549, 32059076, 39914199 |
| Carcinoma Renal Cell |
Associate |
33504936, 39714755 |
| Celiac Disease |
Associate |
21378598 |
| Cholangiocarcinoma |
Associate |
31545466, 32040444 |
| Colorectal Neoplasms |
Associate |
24022192, 35562738, 38134110, 39739032 |
| Disease Progression |
Associate |
37898408 |
| Ehlers Danlos syndrome type 1 |
Associate |
30716086 |
| Endometriosis |
Associate |
35303800 |
| Epstein Barr Virus Infections |
Stimulate |
36315425 |
| Glioma |
Associate |
32597148 |
| HIV Infections |
Associate |
35027434 |
| Hypoxia |
Associate |
37481543 |
| Infertility Male |
Associate |
36446526 |
| Inflammation |
Associate |
28195197 |
| Leiomyosarcoma |
Associate |
32425177 |
| Leukemia Biphenotypic Acute |
Associate |
36532049 |
| Leukemia Myeloid Acute |
Associate |
38085150 |
| Lung Diseases Interstitial |
Associate |
38302188 |
| Lung Neoplasms |
Associate |
35178291 |
| Lymphoma B Cell |
Associate |
18612102 |
| Lymphoma Follicular |
Stimulate |
32436191 |
| Lymphoma Non Hodgkin |
Associate |
36945359 |
| Lymphoma T Cell Cutaneous |
Associate |
36265653 |
| Meningioma |
Associate |
37880655 |
| Mucositis |
Associate |
21378598 |
| Nasal Polyps |
Associate |
37898408 |
| Neoplasm Residual |
Inhibit |
31570267 |
| Neoplasms |
Associate |
22899882, 22956898, 24022192, 24074379, 27220750, 27895310, 29899551, 31138829, 32040444, 32796516, 33097805, 34724892, 34916290, 34996912, 36265653, 36543245, 37880655, 38124067 View all (3 more) |
| Neoplasms |
Inhibit |
32357442, 34183782 |
| Neoplasms Fibroepithelial |
Associate |
25687451 |
| Neurodegenerative Diseases |
Associate |
40229714 |
| Neurofibrosarcoma |
Associate |
15255999 |
| Oculocutaneous albinism type 2 |
Stimulate |
34146382 |
| Pancreatic Neoplasms |
Associate |
33804148 |
| Peritoneal Fibrosis |
Stimulate |
37335673 |
| Personality Disorders |
Associate |
34996912, 38052806 |
| Plaque Atherosclerotic |
Associate |
28195197 |
| Polycystic Ovary Syndrome |
Stimulate |
35393909 |
| Prostatic Neoplasms |
Associate |
21629784, 33630978, 36834602, 38052806 |
| Rectal Neoplasms |
Associate |
29956755 |
| Renal Insufficiency Chronic |
Associate |
32046176 |
| Respiratory Sounds |
Associate |
34088958 |
| Retinoblastoma |
Associate |
35523772 |
| Seminoma |
Associate |
31545448 |
| Sleep Deprivation |
Associate |
40229714 |
| Sleep Wake Disorders |
Associate |
40229714 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
36596059 |
| Status Asthmaticus |
Associate |
34088958 |
| Thecoma |
Associate |
37335673 |
| Thyroid Neoplasms |
Associate |
35528004 |
| Tracheal Stenosis |
Associate |
32309912 |
| Triple Negative Breast Neoplasms |
Associate |
25068292, 39206896 |
| Triple Negative Breast Neoplasms |
Stimulate |
34146382 |
| Tuberculosis |
Associate |
33097805 |
| Uterine Cervical Dysplasia |
Associate |
35008799 |
|