| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Likely benign; Benign; - |
rs184163934, rs58944115, rs564435826, rs148990528, rs552084607, rs79464885 |
RCV005917473 RCV005922368 RCV005925939 RCV005921199 RCV005956608 RCV005903345 |
| Cervical cancer |
Benign; Likely benign |
rs201107788, rs58944115, rs62376783 |
RCV005920056 RCV005922372 RCV005927887 |
| Cholangiocarcinoma |
Benign; Likely benign |
rs200029310, rs4530809, rs201107788, rs58944115, rs564435826, rs201180028 |
RCV005915819 RCV005916946 RCV005920060 RCV005922382 RCV005925942 RCV005869354 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign; Likely benign |
rs59359951, rs200029310, rs201107788, rs58944115 |
RCV005916818 RCV005915821 RCV005920062 RCV005922383 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs148990528, rs62376783 |
RCV005921201 RCV005927888 |
| Colon adenocarcinoma |
Benign; Likely benign |
rs148990528, rs62376783 |
RCV005921198 RCV005927883 |
| Colorectal cancer |
Benign; Likely benign |
rs201180028, rs62376783 |
RCV005869353 RCV005927889 |
| Familial cancer of breast |
Likely benign; Benign |
rs184163934, rs59359951, rs201107788, rs58944115, rs564435826, rs62376783 |
RCV005917472 RCV005916810 RCV005920052 RCV005922367 RCV005925938 RCV005927882 |
| Familial pancreatic carcinoma |
Benign; Likely benign |
rs59359951, rs200029310, rs201107788, rs58944115 |
RCV005916814 RCV005915817 RCV005920058 RCV005922375 |
| Gastric cancer |
Likely benign; Benign |
rs748434818, rs4530809, rs58944115, rs564435826, rs148990528, rs62376783 |
RCV005916116 RCV005916944 RCV005922377 RCV005925941 RCV005921203 RCV005927891 |
| Glaucoma 1, open angle, G |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs59359951, rs33919278, rs35339070, rs17553936, rs34595252, rs118204022, rs35703638, rs116529882, rs10038177, rs145638731, rs11241095, rs13186912, rs762142269, rs143572710, rs200337257 |
RCV002501972 RCV002506708 RCV002243426 RCV002243439 RCV000001647 RCV000001648 RCV000001649 RCV000001650 RCV002245232 RCV003139326 RCV002244708 RCV002244707 RCV005036636 RCV005392803 RCV005357990 |
| Hepatocellular carcinoma |
Benign; Likely benign; - |
rs59359951, rs200029310, rs201107788, rs58944115, rs201180028, rs62376783, rs78205337 |
RCV005916811 RCV005915813 RCV005920053 RCV005922369 RCV005869350 RCV005927884 RCV005956601 |
| High myopia |
Uncertain significance |
rs200337257 |
RCV000785693 |
| Lung cancer |
Likely benign; Benign |
rs564435826, rs62376783 |
RCV005925943 RCV005927894 |
| Lymphoma |
Benign; Likely benign |
rs59359951, rs200029310, rs201107788, rs58944115, rs530423287 |
RCV005916816 RCV005915818 RCV005920059 RCV005922378 RCV005926441 |
| Malignant lymphoma, large B-cell, diffuse |
Benign; Likely benign |
rs59359951, rs4530809, rs58944115, rs201180028 |
RCV005916815 RCV005916943 RCV005922376 RCV005869352 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs184163934, rs200029310, rs4530809, rs201107788, rs58944115, rs564435826, rs148990528, rs62376783 |
RCV005917474 RCV005915814 RCV005916942 RCV005920054 RCV005922370 RCV005925940 RCV005921200 RCV005927885 |
| Melanoma |
Benign |
rs148990528 |
RCV005921205 |
| Nonpapillary renal cell carcinoma |
Benign; Likely benign |
rs59359951, rs200029310, rs201107788, rs58944115, rs201180028, rs62376783 |
RCV005916812 RCV005915815 RCV005920055 RCV005922371 RCV005869351 RCV005927886 |
| Ovarian cancer |
Benign; Likely benign |
rs59359951, rs200029310, rs201107788, rs58944115 |
RCV005916813 RCV005915816 RCV005920057 RCV005922373 |
| Ovarian serous cystadenocarcinoma |
Likely benign; Benign; - |
rs184163934, rs58944115, rs62376783, rs552084607 |
RCV005917476 RCV005922379 RCV005927892 RCV005956609 |
| Primary open angle glaucoma |
Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance |
rs35629723, rs201659734, rs200793653, rs886059764, rs886059766, rs532039350, rs747448169, rs201180028, rs34661294, rs886059770, rs886059771, rs886059780, rs886059792, rs565965136 |
RCV000264299 RCV000286790 RCV000401537 RCV000388759 RCV000276856 RCV000286548 RCV000304275 RCV000294450 RCV000352816 RCV000328200 RCV000377243 RCV000347239 RCV000292368 RCV000398813 RCV000301191 |
| Sarcoma |
Likely benign; Benign |
rs184163934, rs148990528, rs62376783 |
RCV005917475 RCV005921202 RCV005927890 |
| Thymoma |
Benign; Likely benign |
rs59359951, rs58944115 |
RCV005916817 RCV005922381 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
rs148990528, rs62376783, rs189495008 |
RCV005921204 RCV005927893 RCV005926526 |
| Usher syndrome type 2C |
Benign; Likely benign |
rs35703638 |
RCV001258283 |
| Uterine carcinosarcoma |
Benign |
rs4530809, rs58944115 |
RCV005916945 RCV005922380 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs200029310, rs4530809, rs201107788, rs564435826, rs201180028 |
RCV005915820 RCV005916947 RCV005920061 RCV005925944 RCV005869355 |
| Uveal melanoma |
Benign |
rs58944115 |
RCV005922374 |
| WDR36-related disorder |
Benign; Likely benign; Uncertain significance |
rs35703638, rs201659734, rs148990528, rs142088179, rs201288071, rs145835374, rs565004620, rs150299003, rs201180028, rs770712741, rs753999568 |
RCV003924795 RCV003912490 RCV003913610 RCV003921312 RCV003916651 RCV003921314 RCV003427749 RCV003981764 RCV003974361 RCV003964018 RCV003969301 |