| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Uncertain significance; Benign |
rs369551101, rs2302419, rs114650053, rs41275842 |
RCV005911250 RCV005914943 RCV005934862 RCV005912292 |
| Adrenocortical carcinoma, hereditary |
Benign |
rs1140828, rs41275842 |
RCV005909561 RCV005912296 |
| Castleman-Kojima disease |
Uncertain significance |
rs1369361815 |
RCV000824693 |
| Cervical cancer |
Benign; Likely benign |
rs114650053, rs144425988, rs41275842 |
RCV005934863 RCV005910467 RCV005912297 |
| Cholangiocarcinoma |
Benign |
rs114650053, rs41275842 |
RCV005934868 RCV005912309 |
| Clear cell carcinoma of kidney |
Benign |
rs114650053, rs41275842 |
RCV005934864 RCV005912298 |
| Colon adenocarcinoma |
Benign |
rs1140828, rs41275842 |
RCV005909560 RCV005912291 |
| Colorectal cancer |
Benign |
rs1140828, rs41275842 |
RCV005909564 RCV005912301 |
| Familial cancer of breast |
Likely benign; Uncertain significance |
rs774147274, rs756170287 |
RCV005926005 RCV005935057 |
| Familial prostate cancer |
Benign |
rs114650053 |
RCV005934865 |
| Gastric cancer |
Benign |
rs2302419, rs41275842 |
RCV005914946 RCV005912303 |
| Hepatocellular carcinoma |
Benign |
rs2302419, rs41275842 |
RCV005914944 RCV005912293 |
| Lung cancer |
Benign |
rs2302419, rs114650053, rs41275842 |
RCV005914948 RCV005934869 RCV005912310 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs1140828, rs2302419, rs41275842 |
RCV005909563 RCV005914945 RCV005912300 |
| Malignant tumor of esophagus |
Benign |
rs41275842 |
RCV005912294 |
| Melanoma |
Benign |
rs114650053, rs41275842 |
RCV005934867 RCV005912308 |
| Myeloproliferative neoplasm, unclassifiable |
Conflicting classifications of pathogenicity; Benign; Uncertain significance |
rs2074888, rs1052692, rs537417919, rs759917180, rs1445581828, rs551790548 |
RCV002284219 RCV002284220 RCV002284229 RCV002284267 RCV002284268 RCV002284269 |
| Nonpapillary renal cell carcinoma |
Benign |
rs41275842 |
RCV005912295 |
| Ovarian serous cystadenocarcinoma |
Benign; Uncertain significance |
rs2302419, rs2240590, rs41275842 |
RCV005914947 RCV005925529 RCV005912304 |
| Sarcoma |
Benign |
rs41275842 |
RCV005912302 |
| See cases |
Uncertain significance |
rs1186803096 |
RCV002252566 |
| TCF3-related disorder |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs372296344, rs370087169, rs372168347, rs748162352, rs367960890, rs146126608, rs76459051, rs80338425, rs35936626, rs34203855, rs200307903, rs200168957, rs370129424, rs1471157814, rs371323214, rs373710497, rs187316941, rs372813564, rs202076298, rs371002999, rs374988827, rs757572121, rs750143915, rs147824695, rs758090731, rs533848977, rs751551556, rs2514236896, rs771217540, rs780098396, rs2513083318, rs200005697, rs11879402, rs11879412, rs144425988, rs147133056, rs117006898, rs550914200, rs201703361, rs144176765, rs148928381, rs201841190, rs1052747, rs200944840, rs553896459, rs201250905, rs41275842, rs376780559, rs11882821, rs35354874 View all (35 more) |
RCV003416252 RCV004753294 RCV003946022 RCV003946033 RCV003953753 RCV003948549 RCV003948496 RCV003956185 RCV003931081 RCV003911161 RCV003892955 RCV003426282 RCV003941252 RCV003984157 RCV004753439 RCV003903520 RCV003951226 RCV003903499 RCV003903503 RCV003895947 RCV003916720 RCV003898439 RCV004753574 RCV003936330 RCV003395554 RCV004753651 RCV003410198 RCV003400334 RCV003392888 RCV004753711 RCV003902147 RCV003904165 RCV003983308 RCV003978315 RCV004753149 RCV003935971 RCV003920655 RCV003940564 RCV003975612 RCV003910623 RCV003977927 RCV003940823 RCV004753101 RCV003913068 RCV003970421 RCV004753154 RCV003411941 RCV003918639 RCV003928657 RCV003973180 RCV003918821 |
| Thymoma |
Benign |
rs114650053, rs41275842 |
RCV005934866 RCV005912306 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs41275842 |
RCV005912307 |
| Uterine carcinosarcoma |
Benign |
rs1140828, rs41275842 |
RCV005909565 RCV005912305 |
| Uterine corpus endometrial carcinoma |
Benign |
rs114650053, rs41275842 |
RCV005934870 RCV005912311 |
| Uveal melanoma |
Benign |
rs1140828, rs41275842 |
RCV005909562 RCV005912299 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
33833226 |
| Adenocarcinoma in Situ |
Associate |
23688269 |
| Adenoviridae Infections |
Associate |
10846061 |
| Agammaglobulinemia |
Associate |
24216514 |
| Anemia Diamond Blackfan |
Associate |
9292545 |
| Aortic Aneurysm Abdominal |
Inhibit |
37721971 |
| Breast Neoplasms |
Associate |
34700372, 36829181 |
| Bronchiectasis |
Associate |
40703516 |
| Burkitt Lymphoma |
Associate |
22885699, 26437030, 26468873, 26567765, 26712879, 28209658, 30567752, 32449435, 40572059 |
| Burkitt Lymphoma |
Stimulate |
34658308 |
| Carcinogenesis |
Associate |
30894657, 37607071 |
| Carcinogenesis |
Inhibit |
34037532 |
| Carcinoma Basal Cell |
Associate |
14633602 |
| Carcinoma Hepatocellular |
Associate |
20331628 |
| Carcinoma Non Small Cell Lung |
Associate |
23688269 |
| Carcinoma Renal Cell |
Associate |
24228124, 27461063, 31486487 |
| Carcinoma Squamous Cell |
Stimulate |
28604457 |
| Carcinoma Squamous Cell |
Associate |
33833226 |
| Central Nervous System Diseases |
Associate |
19282835 |
| Chromosome 17 trisomy |
Associate |
1516826, 20519628 |
| Chromosome Disorders |
Associate |
32245383 |
| Colorectal Neoplasms |
Associate |
23940558, 24369055, 24454819, 25375219, 25659031, 32737302 |
| Common Variable Immunodeficiency |
Associate |
26081581, 40703516 |
| Desmoid disease hereditary |
Associate |
11437409 |
| Disease |
Associate |
12580965 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
19138562 |
| Edema |
Associate |
33663097 |
| Episodic Kinesigenic Dyskinesia 2 |
Associate |
10500199, 1671560, 17593026, 37704696, 7910944 |
| Episodic Kinesigenic Dyskinesia 2 |
Stimulate |
19101069 |
| Esophageal Squamous Cell Carcinoma |
Associate |
37607071 |
| Fibromatosis Aggressive |
Associate |
11437409 |
| Fibrosis |
Associate |
16814783, 24516231, 38303515 |
| Gastro enteropancreatic neuroendocrine tumor |
Associate |
34037532 |
| Genetic Diseases Inborn |
Associate |
19553647 |
| Glaucoma Open Angle |
Associate |
36727359 |
| Glioma |
Associate |
36231068, 40653505 |
| Hematologic Diseases |
Associate |
15182431 |
| Hematologic Neoplasms |
Associate |
38303515 |
| Hepatitis B |
Associate |
23107779, 27461063 |
| Hereditary Angioedema Type III |
Stimulate |
11398990 |
| Hereditary leiomyomatosis and renal cell cancer |
Associate |
16877363, 27166193 |
| Hodgkin Disease |
Associate |
27166193 |
| Idiopathic Pulmonary Fibrosis |
Associate |
18478089 |
| Infections |
Associate |
32184235 |
| Inflammation |
Inhibit |
37721971 |
| Kidney Neoplasms |
Associate |
24516231, 34278464 |
| Leukemia |
Associate |
11369863, 12086872, 19101069, 21536647, 22972988, 24454819, 25137060, 25266309, 28651627, 30894657, 31735627, 33542097, 34597466, 36943767, 7910944, 8159721, 8639829, 9927512 View all (3 more) |
| Leukemia |
Stimulate |
14536079 |
| Leukemia B Cell |
Associate |
19282835, 32029838 |
| Leukemia Biphenotypic Acute |
Associate |
15801954, 19138562, 24990612, 32150610, 32378810, 33164984, 33890726, 34406703, 37981088 |
| Leukemia Erythroblastic Acute |
Associate |
9525934 |
| Leukemia Lymphoid |
Associate |
14536079 |
| Leukemia Myeloid |
Stimulate |
7910944 |
| Leukemia Myeloid Acute |
Associate |
10500199, 23091311, 27632978, 30894657, 8327485 |
| Leukemia T Cell |
Associate |
25499232 |
| Lung Neoplasms |
Associate |
28592245 |
| Lymphatic Diseases |
Associate |
22994759 |
| Lymphoma |
Associate |
16782810, 17272506, 21788410, 24369055, 34658308 |
| Lymphoma B Cell |
Associate |
28209658, 34260910, 34553842 |
| Lymphoma B Cell Marginal Zone |
Associate |
20802470 |
| Lymphoma Large B Cell Diffuse |
Associate |
22517897, 28479318 |
| Lymphoma Primary Effusion |
Associate |
17456056 |
| Lymphoma T Cell |
Associate |
17272506, 21788410 |
| Neoplasm Metastasis |
Associate |
24369055, 25375219, 34700372 |
| Neoplasm Metastasis |
Inhibit |
34037532 |
| Neoplasms |
Associate |
11437409, 19138562, 21655267, 22564737, 23688269, 24454819, 27701467, 34700372, 35065254, 35587604, 37019972, 37607071, 39228892, 40653505 |
| Neoplasms |
Inhibit |
14536079, 21788410 |
| Neoplasms |
Stimulate |
33833226 |
| Neuroblastoma |
Associate |
16705184, 23135478 |
| Optic Nerve Hypoplasia |
Associate |
31696227 |
| Parkinson Disease |
Associate |
26510930 |
| Philadelphia Chromosome |
Associate |
36124444 |
| Polycythemia Vera |
Inhibit |
38303515 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate |
10500199, 1967982, 22911440, 23107779, 24578304, 25137060, 25273558, 27461063, 28063722, 30487223, 31575852, 35092653, 36124444, 36233173, 7910944, 8704188 View all (1 more) |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
12415113, 12580965, 1348433, 1516826, 1520867, 1671560, 19101069, 19922767, 20564080, 22911440, 22972988, 23107779, 23148371, 24578304, 25273558, 26883104, 27461063, 27590521, 28385156, 30563523, 31735627, 32150610, 32276273, 32882024, 33542097, 33663097, 33890726, 34406703, 34553842, 34617433, 35084434, 36943767, 37704696, 37819686, 8065331, 8180393, 8552663 View all (22 more) |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
15801954, 17593026, 19138562, 24990612, 25499232, 32245383, 33663097, 34549416, 35001521, 36550642, 9927512 |
| Prehypertension |
Associate |
10500199, 19282835 |
| Primary Myelofibrosis |
Inhibit |
38303515 |
| Prostatic Neoplasms |
Associate |
22564737, 27701467 |
| Renal Insufficiency |
Associate |
33960101 |
| Rhabdomyosarcoma |
Associate |
19299559 |
| Sarcoma Alveolar Soft Part |
Associate |
32127467 |
| Sezary Syndrome |
Associate |
21788410 |
| Stomach Neoplasms |
Associate |
34700372, 35065254, 37100457 |
| Tarlov Cysts |
Associate |
25375219 |
| Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities |
Associate |
10979974 |
| Uterine Cervical Neoplasms |
Associate |
28604457, 35587604 |
| Varicella Zoster Virus Infection |
Associate |
36439222 |
| Virus Diseases |
Associate |
15681431 |
| Waldenstrom Macroglobulinemia |
Associate |
32457988 |
| Wilms Tumor |
Associate |
34278464 |
|