| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs112015622, rs139279361 |
RCV005904413 RCV005904480 |
| Adrenocortical carcinoma, hereditary |
Benign; Likely benign |
rs139279361 |
RCV005904483 |
| Anaplastic ependymoma |
other |
rs765980348 |
RCV000505602 |
| Atypical coarctation of aorta |
Conflicting classifications of pathogenicity |
rs768740459 |
RCV000845199 |
| Cervical cancer |
Benign; Likely benign |
rs112015622, rs139279361 |
RCV005904414 RCV005904484 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs139279361 |
RCV005904485 |
| Colon adenocarcinoma |
Likely benign; Benign |
rs534665823, rs139279361 |
RCV005931398 RCV005904479 |
| Colorectal cancer |
Benign; Likely benign |
rs139279361 |
RCV005904486 |
| Familial cancer of breast |
Benign; Likely benign |
rs189492831, rs114046339, rs139279361 |
RCV005934951 RCV005904812 RCV005904478 |
| Gastric cancer |
Benign; Conflicting classifications of pathogenicity; Likely benign |
rs184593439, rs143828863, rs139279361 |
RCV005925970 RCV005931346 RCV005904488 |
| Hepatocellular carcinoma |
Benign |
rs148590969 |
RCV005868582 |
| Lung cancer |
Benign; Likely benign |
rs114046339, rs139279361 |
RCV005904814 RCV005904491 |
| Lymphoma |
Benign |
rs148590969 |
RCV005868585 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs148590969 |
RCV005868584 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs148590969, rs116694967, rs139279361 |
RCV005868583 RCV005913314 RCV005904481 |
| Melanoma |
Benign; Likely benign |
rs139279361 |
RCV005904490 |
| Moyamoya disease 1 |
Conflicting classifications of pathogenicity |
rs1555676035 |
RCV004760524 |
| Nonpapillary renal cell carcinoma |
Benign; Likely benign |
rs139279361 |
RCV005904482 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs139279361, rs114454593 |
RCV005904489 RCV005907548 |
| Papillary renal cell carcinoma type 1 |
Benign |
rs114046339 |
RCV005904813 |
| RNF213-related disorder |
Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs17853714, rs17853989, rs17853713, rs17857135, rs77506504, rs201733659, rs759726740, rs118128489, rs369786853, rs369984023, rs1333760921, rs745353314, rs141625043, rs61745567, rs769125059, rs142182615, rs150645206, rs769064475, rs924140275, rs2511466157, rs771952527, rs2511377696, rs775149654, rs376874221, rs368929895, rs369925295, rs144944826, rs752662991, rs775787416, rs570724464, rs199745423, rs760848800, rs756451900, rs139873121, rs951370818, rs142018990, rs1381177917, rs146974744, rs149177904, rs144769597, rs201493500, rs147868237, rs112401479, rs141329059, rs76370064, rs75161557, rs61746605, rs72849865, rs138595111, rs150849968, rs143904490, rs143184273, rs368221664, rs138044665, rs116594105, rs143580800, rs117159774, rs114370278, rs147785564, rs147900479, rs12944385, rs146754081, rs114454593, rs7501767, rs144083500, rs116608867, rs80097023, rs138032722, rs144219136, rs114014180, rs143472355, rs186220836, rs140689095, rs116948489, rs368777091, rs199523492, rs775719348, rs145210854, rs200865029, rs201832175, rs371195005, rs372791334 View all (67 more) |
RCV003975884 RCV003978556 RCV003978557 RCV003978731 RCV003968752 RCV003417695 RCV003943544 RCV004741575 RCV003410730 RCV003397323 RCV003397475 RCV003410415 RCV003919141 RCV003966380 RCV003946667 RCV003923941 RCV003929567 RCV003893886 RCV003894020 RCV003902194 RCV003904294 RCV003899634 RCV003911589 RCV003933879 RCV003933905 RCV003941887 RCV003943966 RCV003944094 RCV003964175 RCV003939735 RCV003949630 RCV003914323 RCV003947198 RCV003926911 RCV003946921 RCV003934650 RCV003967043 RCV003969046 RCV004742439 RCV004742440 RCV003960120 RCV003972804 RCV003903174 RCV003925909 RCV004743225 RCV004743226 RCV003903175 RCV004743233 RCV003935928 RCV003928456 RCV003926142 RCV003968167 RCV003968103 RCV003424444 RCV003930855 RCV003948365 RCV003955913 RCV003930856 RCV003920661 RCV004742678 RCV003920492 RCV004742680 RCV003912880 RCV003923136 RCV003922854 RCV003912918 RCV003922850 RCV003968300 RCV003968339 RCV003958064 RCV003912953 RCV003950664 RCV003922990 RCV003922855 RCV004742684 RCV004743198 RCV003933093 RCV003923188 RCV004743187 RCV004726733 RCV003933195 RCV003903081 |
| Sarcoma |
Benign; Likely benign |
rs139279361 |
RCV005904487 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs114046339, rs139279361 |
RCV005904815 RCV005904492 |
|
| Disease Name |
Relationship Type |
References |
| Abnormalities Drug Induced |
Associate |
39868517 |
| Alzheimer Disease |
Associate |
24731980 |
| Aneurysm |
Associate |
34680863 |
| Aortic Diseases |
Associate |
31818681, 37012328 |
| Ape Diseases |
Associate |
34913393 |
| Aphasia |
Associate |
34913393 |
| Arterial Occlusive Diseases |
Associate |
29165136, 30925911, 30992731, 32182997, 32954918, 33568546, 36611871 |
| Atherosclerosis |
Associate |
31590595, 33055470, 34955493, 37137523 |
| Brain Infarction |
Associate |
37137523 |
| Brain Ischemia |
Associate |
29160859 |
| Carcinoma Hepatocellular |
Associate |
29556353, 34288818 |
| Carcinoma Pancreatic Ductal |
Associate |
28679692 |
| Carcinoma Renal Cell |
Associate |
33112109, 34980126 |
| Cardiovascular Diseases |
Associate |
39868517 |
| Carotid Artery Diseases |
Associate |
34680863 |
| Carotid Artery Injuries |
Associate |
32954918 |
| Carotid Stenosis |
Associate |
26198278, 31818681, 33482763, 34680863, 34773068 |
| Cerebral Amyloid Angiopathy |
Associate |
26198278, 31818681 |
| Cerebral Arterial Diseases |
Associate |
35430511, 40301050 |
| Cerebral Hemorrhage |
Associate |
36580209 |
| Cerebral Infarction |
Associate |
31818681, 33370357, 33482763, 39191959 |
| Cerebral Palsy |
Associate |
38141320 |
| Cerebral Small Vessel Diseases |
Associate |
40300577 |
| Cerebrovascular Disorders |
Associate |
28931766, 32367296, 35135845, 39531151, 39868517 |
| Chlamydia Infections |
Associate |
36084633 |
| Chorea |
Associate |
33482763 |
| Cleft Lip |
Associate |
35385219 |
| Communicable Diseases |
Associate |
40028855 |
| Constriction Pathologic |
Associate |
26125557, 31590595, 34858321, 37137523, 39531151 |
| Corneal Endothelial Cell Loss |
Associate |
38573771 |
| Coronary Artery Disease |
Associate |
38115307 |
| Dementia |
Associate |
28600779 |
| Depressive Disorder |
Associate |
40300577 |
| Diabetes Mellitus |
Associate |
26125557 |
| Disease |
Associate |
29483232 |
| Dissection Blood Vessel |
Associate |
40300577 |
| Down Syndrome |
Associate |
39367156 |
| Dyskinesias |
Associate |
33482763 |
| Familial cerebral cavernous malformation |
Associate |
36580209 |
| Hand Foot and Mouth Disease |
Associate |
31818681 |
| Headache |
Associate |
31818681 |
| Heart Defects Congenital |
Associate |
35385219 |
| Hematoma |
Associate |
40225941 |
| Hemorrhage |
Associate |
23110205, 29160859 |
| Herpesviridae Infections |
Associate |
36917666 |
| Hyperhomocysteinemia |
Associate |
40225941 |
| Hyperlipidemias |
Associate |
40225941 |
| Hypertension |
Associate |
31815282 |
| Hypertension Pulmonary |
Associate |
39868517 |
| Infarction |
Associate |
38057092, 40225941 |
| Infarction Middle Cerebral Artery |
Associate |
35430511, 39191959 |
| Infarction Posterior Cerebral Artery |
Associate |
31949090, 37012328 |
| Infections |
Inhibit |
36917666 |
| Intellectual Disability |
Associate |
28600779 |
| Intracranial Aneurysm |
Associate |
27745834, 34680863 |
| Intracranial Arterial Diseases |
Associate |
30992731 |
| Intracranial Arteriosclerosis |
Associate |
30992731, 31142690, 33356381 |
| Intracranial Embolism |
Associate |
34913393 |
| Ischemia |
Associate |
23110205 |
| Ischemic Attack Transient |
Associate |
33370357, 37137523 |
| Kartagener Syndrome |
Associate |
34680863 |
| Kidney Diseases |
Associate |
33960657 |
| Kidney Neoplasms |
Associate |
33112109 |
| Leigh Disease |
Associate |
37924258 |
| Leigh syndrome French Canadian type |
Associate |
27745834 |
| Lipodystrophy Familial Partial |
Associate |
33055470 |
| Livedoid Vasculopathy |
Associate |
31590595, 33482763, 33568546, 39868517 |
| Lung Neoplasms |
Associate |
33200540 |
| Lymphoma |
Associate |
28659337 |
| Lymphoma Large Cell Anaplastic |
Associate |
28659337 |
| Mesenteric Vascular Occlusion |
Associate |
33568546 |
| Mesothelioma Malignant |
Associate |
32429658 |
| Mitral Valve Insufficiency |
Associate |
35128622 |
| Moyamoya Disease |
Associate |
22688066, 23110205, 24658080, 25093848, 25876583, 25964206, 26125557, 26198278, 26530418, 26590131, 27253870, 27365075, 27736983, 27745834, 28276505, 28497183, 28617845, 28635953, 28931766, 29160859, 29165136, 30001348, 30001370, 30157848, 30846318, 30992731, 31197213, 31347299, 31590595, 31818681, 31949090, 32139119, 32182997, 32686731, 32954918, 33055470, 33356381, 33370357, 33452387, 33482763, 33568546, 33960657, 34013582, 34680863, 34710878, 34773068, 34858321, 34913393, 35128622, 35135845, 35430511, 35500358, 35640559, 35876407, 36424438, 36497052, 36611871, 36843178, 37166684, 37924258, 38057092, 38115307, 38141320, 38573771, 39191959, 39367156, 39868517, 40028855, 40225941, 40301050, 40682695 View all (56 more) |
| Moyamoya disease 1 |
Associate |
27736983, 28635953, 37012328 |
| Moyamoya disease 2 |
Associate |
34573383 |
| Multiple Pulmonary Nodules |
Associate |
33200540 |
| Multiple Sclerosis |
Associate |
31170158, 34584155 |
| Muscular Dystrophy Duchenne |
Associate |
31347299 |
| Myocardial Infarction |
Associate |
40682695 |
| Myopathies Structural Congenital |
Associate |
36580209 |
| Neoplasms |
Associate |
30703342, 33200540, 35568949 |
| Neuromuscular Diseases |
Associate |
31347299 |
| Osteogenesis imperfecta type 1A |
Associate |
27745834 |
| Peripheral Vascular Diseases |
Associate |
37137523 |
| Pulmonary Arterial Hypertension |
Associate |
34710878 |
| Renal Artery Obstruction |
Associate |
32686731, 34955493, 35259553, 37137523, 39531151, 39868517, 40028855 |
| Sarcoma |
Associate |
35568949 |
| Seizures |
Associate |
26198278 |
| Sinus Thrombosis Intracranial |
Associate |
36580209 |
| Skin Diseases |
Associate |
33960657 |
| Stenosis Pulmonary Artery |
Associate |
34710878 |
| Stomach Neoplasms |
Associate |
36484990 |
| Stroke |
Associate |
26125557, 32106772, 34955493, 36580209, 37012328, 37137523, 37924258, 40225941 |
| Syndrome |
Associate |
29483232 |
| Thoracic Outlet Syndrome |
Associate |
27745834 |
| Thyroid cancer medullary |
Associate |
34858321 |
| Uterine Cervical Neoplasms |
Associate |
32718341 |
| Vascular Diseases |
Associate |
29483232, 33055470, 34710878, 34773068, 38573771 |
| Vascular System Injuries |
Associate |
34680863 |
| Ventricular Outflow Obstruction Right |
Associate |
35385219 |
| Virus Diseases |
Associate |
31818681 |
| Williams Syndrome |
Associate |
35640559 |
|