| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cervical cancer |
Benign |
rs182143157, rs76713924, rs190871521 |
RCV005915396 RCV005915783 RCV005925147 |
| Colorectal cancer |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs200102232, rs139415835, rs377127652, rs138749997, rs143324598, rs377159911, rs759392511, rs774305707, rs199759496, rs748100448, rs777832666, rs371098007, rs139778805, rs145626397, rs779873981, rs372504089, rs369869681, rs150334629, rs774250564, rs146692656, rs200732432, rs139243841, rs762350131, rs772737562, rs369660947, rs199783855, rs138181048, rs1174477487, rs2537168891, rs755227268, rs776281758, rs201802566, rs779069462, rs778972387, rs747814419, rs758071775, rs751013009, rs199517109, rs760347660, rs140615088, rs149628772, rs778690040, rs1486488777, rs775455713, rs759706273, rs371215744, rs776252355, rs575649250, rs1585612635, rs1818927011, rs745558252, rs752811476, rs780462302, rs563588933, rs759626631, rs779524261, rs374190119, rs34941980, rs1127606, rs114637912, rs145989730, rs200908536, rs559854315 View all (48 more) |
RCV002506827 RCV002479776 RCV005038423 RCV002499994 RCV002486958 RCV005045252 RCV005045296 RCV005050744 RCV005045328 RCV005045342 RCV005045322 RCV005045350 RCV005050758 RCV005044958 RCV005044964 RCV005050637 RCV005045038 RCV005045056 RCV005045066 RCV005045115 RCV005045106 RCV005045109 RCV005045110 RCV005045119 RCV005045143 RCV005034537 RCV005045151 RCV005045382 RCV005047325 RCV005047341 RCV005047363 RCV005047391 RCV005047392 RCV005036633 RCV005047400 RCV005047454 RCV005047489 RCV005047496 RCV005047501 RCV005051298 RCV005047658 RCV005036905 RCV005047725 RCV005051360 RCV005047782 RCV005047781 RCV005047788 RCV005047789 RCV005040596 RCV005040597 RCV005040632 RCV005051423 RCV005051424 RCV005040633 RCV005033946 RCV002481573 RCV002475986 RCV002479114 RCV002505474 RCV002505317 RCV002502751 RCV002502773 RCV002495508 |
| DLC1-related disorder |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs200102232, rs73551600, rs143324598, rs140340878, rs377159911, rs371098007, rs544799456, rs774305707, rs748100448, rs199980849, rs139251311, rs376046492, rs746295250, rs150090193, rs142253103, rs138098839, rs61752025, rs138711469, rs146692656, rs149295187, rs538334326, rs143724114, rs199783855, rs780367229, rs373454336, rs149472569, rs760347660, rs35279447, rs140615088, rs776594367, rs2486210928, rs751464406, rs748424907, rs892538546, rs370230812, rs144090028, rs149560610, rs748854119, rs561597944, rs566023348, rs138142534, rs1298834586, rs2537064210, rs752886435, rs144283917, rs770565565, rs2537106052, rs61757614, rs114637912, rs200103571, rs559854315 View all (36 more) |
RCV003941134 RCV003968736 RCV003958882 RCV003951302 RCV004753622 RCV003943777 RCV003963642 RCV004753628 RCV003410122 RCV003961144 RCV003926460 RCV004753596 RCV003916627 RCV003418657 RCV003961216 RCV003916631 RCV003943637 RCV003943639 RCV003961312 RCV003418663 RCV003963494 RCV003916683 RCV003943681 RCV003973609 RCV003984314 RCV003930023 RCV003396979 RCV003919046 RCV003393077 RCV003391659 RCV003414329 RCV003410791 RCV003420984 RCV003946716 RCV003893465 RCV003929650 RCV003981666 RCV003902171 RCV003901768 RCV003892249 RCV003899200 RCV003942050 RCV003944174 RCV003954933 RCV003949584 RCV003934768 RCV003947296 RCV003963822 RCV003960758 RCV003950633 RCV003958255 RCV003970373 |
| Familial cancer of breast |
Uncertain significance |
rs149295187 |
RCV005926565 |
| Gastric cancer |
Benign |
rs76713924 |
RCV005915784 |
| Lung cancer |
Benign; Uncertain significance |
rs76713924, rs73552372, rs149295187 |
RCV005915787 RCV005917029 RCV005926567 |
| Malignant tumor of esophagus |
Benign |
rs76713924 |
RCV005915782 |
| Melanoma |
Uncertain significance; Likely benign |
rs149295187, rs778690040 |
RCV005926566 RCV005931537 |
| Neural tube defect |
risk factor |
rs1563593163, rs1303000329 |
RCV000709686 RCV000709685 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs182143157, rs76713924, rs190871521 |
RCV005915398 RCV005915785 RCV005925149 |
| Sarcoma |
Benign |
rs182143157, rs190871521 |
RCV005915397 RCV005925148 |
| Thymoma |
Benign |
rs76713924 |
RCV005915786 |
| Thyroid cancer, nonmedullary, 1 |
Conflicting classifications of pathogenicity |
rs139243841 |
RCV005926598 |
| Uterine corpus endometrial carcinoma |
Benign |
rs76713924, rs73552372 |
RCV005915788 RCV005917030 |
|
| Disease Name |
Relationship Type |
References |
| 3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency |
Associate |
17965626 |
| Adenocarcinoma |
Associate |
23509688 |
| Adenocarcinoma of Lung |
Associate |
23639940, 25242053, 32741804, 33612479, 33754907, 35029906, 35238419, 37790851 |
| Adenocarcinoma of Lung |
Inhibit |
27174913, 33678109 |
| Adenoma |
Inhibit |
23509688 |
| Ascites |
Associate |
23988121 |
| Atherosclerosis |
Stimulate |
30231995 |
| Breast Neoplasms |
Associate |
12759748, 17418982, 22799310, 25425654, 30278072, 31110002, 35322810 |
| Breast Neoplasms |
Inhibit |
27174913 |
| Burkitt Lymphoma |
Associate |
17965626 |
| Carcinogenesis |
Associate |
12759748, 18829524, 21217778, 34727930 |
| Carcinoma Hepatocellular |
Associate |
16980951, 19440389, 22180715, 22645138, 23826380, 24443565, 26846339, 28358928, 28982593, 30827083, 33102579, 33591950, 38019231 |
| Carcinoma Hepatocellular |
Inhibit |
27174913 |
| Carcinoma Non Small Cell Lung |
Inhibit |
17932950 |
| Carcinoma Non Small Cell Lung |
Associate |
24082123, 31059015 |
| Carcinoma Pancreatic Ductal |
Associate |
23681804 |
| Carcinoma Renal Cell |
Associate |
35508649 |
| Carcinoma Squamous Cell |
Associate |
23625658, 34517553 |
| Carcinoma Squamous Cell |
Inhibit |
27174913 |
| Cell Transformation Neoplastic |
Associate |
32214200 |
| Cholangiocarcinoma |
Associate |
27593557 |
| Colorectal Neoplasms |
Associate |
23509688, 24694993, 26223867, 27366946, 33787596, 35280693 |
| Death |
Associate |
32596987 |
| Diabetes Mellitus |
Associate |
28068899 |
| Dyskinesias |
Inhibit |
22002576 |
| Dyslexia Acquired |
Associate |
32596987 |
| Emphysema |
Associate |
26030696 |
| Esophageal Neoplasms |
Associate |
35414117 |
| Hematologic Neoplasms |
Inhibit |
18923442 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
12759748, 18593873, 22799310 |
| Hirschsprung Disease |
Associate |
23270508 |
| Hodgkin Disease |
Associate |
17965626 |
| Leukemia B Cell |
Associate |
20224725 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
19543515 |
| Leukemia Myeloid Acute |
Associate |
19543515, 24164743 |
| Leukemia Prolymphocytic T Cell |
Associate |
20974048 |
| Lung Diseases |
Associate |
23826380 |
| Lung Neoplasms |
Associate |
20849603, 21372205, 23639940, 25425654, 32441866 |
| Lymphatic Metastasis |
Inhibit |
23625658, 26239822 |
| Lymphatic Metastasis |
Associate |
23681804, 23988121, 26846339 |
| Lymphoma |
Associate |
17965626 |
| Lymphoma Extranodal NK T Cell |
Associate |
17965626 |
| Lymphoma Large B Cell Diffuse |
Associate |
17965626, 18288132 |
| Lymphoma Non Hodgkin |
Inhibit |
17965626 |
| Melanoma |
Inhibit |
24557030 |
| Melanoma |
Associate |
32214200 |
| Melanoma Cutaneous Malignant |
Inhibit |
24557030 |
| Meningioma |
Associate |
27614886 |
| Multiple Myeloma |
Associate |
16489177, 18923442, 23285118 |
| Nasopharyngeal Carcinoma |
Associate |
20473931, 21535891, 33215427 |
| Neoplasm Metastasis |
Associate |
22272086, 22799310, 23988121, 26514520, 32214200, 33591950 |
| Neoplasm Metastasis |
Inhibit |
25525271, 26239822, 26846339 |
| Neoplasms |
Inhibit |
16270321, 16980951, 17932950, 18460741, 18829524, 18923442, 19151751, 19440389, 19710422, 21217778, 21372205, 22064653, 22522847, 22645138, 23509688, 23625658, 23826380, 24443565, 24557030, 25008324, 25425654, 25743845, 26239822, 26514520, 27174913, 27593557, 27614886, 28032931, 28983625, 30045871, 30278072, 30827083, 31110002, 31806702, 32214200, 33148199, 33612479, 33678109, 34071861, 34727930, 35322810, 40354489 View all (27 more) |
| Neoplasms |
Associate |
16489177, 17965626, 18288132, 18593873, 18829524, 20849603, 22002576, 22799310, 22942252, 23988121, 24082123, 24475253, 24577895, 25425654, 25525271, 26846339, 29114068, 32606003, 33142932, 35280693, 37790851 View all (6 more) |
| Neural Tube Defects |
Associate |
30415495 |
| Obesity |
Associate |
28068899 |
| Ovarian Neoplasms |
Associate |
16270321, 19487548, 23988121, 32316405, 34071861 |
| Paget Disease Extramammary |
Associate |
22522847 |
| Prostatitis |
Associate |
22473989 |
| Pulmonary Arterial Hypertension |
Associate |
30231995 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
22002576, 34051764 |
| Stiff Skin Syndrome |
Stimulate |
30231995 |
| Stomach Neoplasms |
Associate |
19116449, 23049225, 34933074, 35578189, 36173625 |
| Stomach Neoplasms |
Inhibit |
26239822 |
| Tertiary Lymphoid Structures |
Associate |
37790851 |
| Triple Negative Breast Neoplasms |
Associate |
38305604 |
| Urinary Bladder Neoplasms |
Associate |
24577895 |
| Vasculitis Leukocytoclastic Cutaneous |
Associate |
23625658 |
|