| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cervical cancer |
Benign |
rs762688563 |
RCV005868618 |
| Hepatocellular carcinoma |
Conflicting classifications of pathogenicity |
rs139649754 |
RCV005899498 |
| Hereditary spastic paraplegia |
Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign |
rs755920309, rs184516277, rs2106070461, rs2106076413, rs2086128764, rs557196021, rs2106075505, rs8539, rs11551349, rs1050347, rs189395138, rs41265953, rs11551346, rs111401572, rs141357756, rs147135152, rs79630442, rs142434256, rs67967266, rs185384719, rs199527127 View all (6 more) |
RCV001848454 RCV001848455 RCV001848456 RCV001848458 RCV001848459 RCV001848460 RCV001848461 RCV001847688 RCV001847689 RCV001847690 RCV001847745 RCV001847746 RCV001847747 RCV001847748 RCV001847878 RCV001847956 RCV001848675 RCV001848790 RCV000515926 RCV001849138 RCV001847170 |
| Malignant tumor of urinary bladder |
Conflicting classifications of pathogenicity |
rs139649754 |
RCV005899497 |
| Spastic paraplegia |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs184516277, rs2086074548, rs2086171680, rs780655407, rs748662234, rs2106079354, rs879486164, rs1402469498, rs755920309, rs2086045656, rs757619883, rs1390512592, rs1211601466, rs8539, rs11551349, rs1050347, rs1235751492, rs757331948, rs953604247, rs2106071590, rs2106079220, rs61736612, rs189395138, rs41265953, rs11551346, rs111401572, rs774106420, rs763177690, rs747360903, rs781225976, rs757923024, rs764997042, rs1342462739, rs2106081166, rs762688563, rs2106070845, rs2106079360, rs746515365, rs755577488, rs780386445, rs773769774, rs1398951749, rs1292537183, rs765859683, rs377025571, rs2470108303, rs2470118665, rs149003485, rs1174280053, rs2470104484, rs2470108465, rs377646493, rs2086194196, rs1374199150, rs760045525, rs2086145437, rs375736101, rs779051377, rs778531510, rs1205193922, rs2470108730, rs1233162455, rs776821463, rs973346319, rs2470106194, rs1166759713, rs2470117491, rs1020108381, rs770933046, rs1281838691, rs1308231485, rs757141779, rs770624807, rs775463346, rs2470119898, rs746782464, rs2470122687, rs2086036147, rs1278233992, rs766477764, rs2086117498, rs1329172428, rs2086171541, rs761534155, rs2470106301, rs2470106003, rs2470123049, rs771836446, rs2470105940, rs748932852, rs763822262, rs149856944, rs767207534, rs141357756, rs61755731, rs550968901, rs1419179184, rs2470108390, rs917122575, rs780729843, rs863224878, rs1438601135, rs1473159644, rs2470108711, rs1390911561, rs2470108635, rs864622156, rs146598485, rs147135152, rs139436185, rs902839589, rs2303884, rs886055386, rs769110777, rs79630442, rs1559300150, rs2470116164, rs2470126027, rs1486511082, rs2470125736, rs781462822, rs759648711, rs1390020570, rs199668367, rs780286521, rs776946007, rs199527127, rs777977412, rs2470125749, rs2086117559, rs1422288583, rs2086136352, rs772478050, rs2470117470, rs2470125937, rs1307988233, rs1217342431, rs145059267, rs544458991, rs2470110343, rs1366309178, rs753371736, rs886387123, rs1433076822, rs1479585915, rs564748273, rs142434256, rs1057524367, rs142108846, rs374322039, rs139649754, rs535634000, rs67967266, rs374694909, rs1395703930, rs749499239, rs781279282, rs1553577750, rs747860040, rs772071575, rs764224635, rs185384719, rs777390686, rs376584082, rs780546992, rs764674576, rs762474761, rs774204945, rs553299722, rs1559301094, rs755970968, rs1333403005, rs371969794, rs2086144311, rs2086193983, rs774482203, rs1433866863, rs140261894, rs772029212, rs766297735, rs2086137164, rs749804768 View all (167 more) |
RCV001315925 RCV001326675 RCV001341277 RCV001367580 RCV001437615 RCV001505698 RCV002538565 RCV003772274 RCV003772381 RCV002014859 RCV001867542 RCV001878251 RCV001902753 RCV000860062 RCV001081749 RCV000860063 RCV001890769 RCV001933162 RCV002029733 RCV002008395 RCV001908628 RCV000459800 RCV000469114 RCV000233769 RCV000474775 RCV000205928 RCV001866582 RCV002016431 RCV001947586 RCV001936875 RCV002047401 RCV001978356 RCV001934173 RCV002089200 RCV002080434 RCV002080481 RCV002153798 RCV002186235 RCV002079121 RCV002110775 RCV002102609 RCV002179739 RCV002178312 RCV002204871 RCV002204975 RCV002129048 RCV002300284 RCV002298375 RCV000168086 RCV003058758 RCV003068664 RCV003068665 RCV003062373 RCV003062829 RCV003072092 RCV003079258 RCV003095840 RCV003099073 RCV003092155 RCV003092156 RCV002632582 RCV002606927 RCV002636922 RCV002651002 RCV002629486 RCV002634012 RCV003110381 RCV003118435 RCV002580946 RCV002590765 RCV002626760 RCV002715553 RCV002725919 RCV002726067 RCV002710688 RCV002721711 RCV002721775 RCV002730576 RCV002746041 RCV002766315 RCV002786166 RCV002780350 RCV002780981 RCV002756323 RCV002785398 RCV002801544 RCV002820271 RCV002821014 RCV002829939 RCV002835349 RCV002875642 RCV002871939 RCV002909042 RCV002927602 RCV002919112 RCV000460895 RCV001088351 RCV002904795 RCV002952848 RCV002914845 RCV002975810 RCV002942659 RCV002517300 RCV002999602 RCV003059488 RCV003044451 RCV003049123 RCV003036608 RCV000205667 RCV000205074 RCV000231961 RCV000228658 RCV003750961 RCV000476543 RCV001319252 RCV002521353 RCV000540092 RCV003588966 RCV003589656 RCV003589663 RCV003589575 RCV003589881 RCV003588617 RCV003590550 RCV003590857 RCV003590826 RCV003588127 RCV003589099 RCV003590028 RCV003590446 RCV003591024 RCV003751048 RCV003751049 RCV003751707 RCV003752162 RCV003752355 RCV003752501 RCV003752567 RCV003750429 RCV003750432 RCV003751359 RCV003751344 RCV003811194 RCV003825669 RCV003836063 RCV003849603 RCV003857881 RCV003864551 RCV003873213 RCV002522594 RCV002522670 RCV000863075 RCV000464620 RCV000457978 RCV000473495 RCV001326732 RCV003588640 RCV000525374 RCV001454152 RCV000633022 RCV000633027 RCV000817234 RCV000819690 RCV003750824 RCV001088313 RCV001391688 RCV002536784 RCV001400996 RCV001858547 RCV002062255 RCV000868470 RCV002064649 RCV001399679 RCV001480938 RCV001395387 RCV000983868 RCV001050713 RCV001062123 RCV001043856 RCV003769658 RCV001464884 RCV001295710 RCV003588720 RCV001209512 RCV001232457 RCV001227906 |
| Spastic paraplegia, autosomal dominant |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign |
rs777031722, rs886055390, rs34519984 |
RCV000312267 RCV000309916 RCV000403275 |
|
| Disease Name |
Relationship Type |
References |
| Acquired Immunodeficiency Syndrome |
Associate |
23028910 |
| Adenocarcinoma |
Associate |
23839491, 27491302, 28178129 |
| Adenocarcinoma of Lung |
Associate |
33640883, 37189138, 37694354, 38017020 |
| Adenoma |
Associate |
27491302 |
| Alzheimer Disease |
Associate |
39201760 |
| Antiphospholipid Syndrome |
Associate |
18759277 |
| Aortic Aneurysm Thoracic |
Associate |
36291095 |
| Aortic Valve Stenosis |
Associate |
15120829 |
| Arthritis |
Associate |
1316935, 7883993 |
| Arthritis Juvenile |
Associate |
12847694, 1316935, 7883993 |
| Arthritis Reactive |
Associate |
10640771, 23705835, 8608642 |
| Arthritis Rheumatoid |
Associate |
10692038, 11048656, 17457039, 7632088, 8608642 |
| Asthma |
Associate |
19913588 |
| Astrocytoma |
Associate |
10701837 |
| Atherosclerosis |
Associate |
10021466, 10203577, 21798264, 22901435, 24347824, 25654359, 26078803, 28604836, 29151033, 32196617, 35308005, 7664485, 8099471, 9250400 |
| Atrial Remodeling |
Associate |
17688193 |
| Autoimmune Diseases |
Associate |
10203577, 11882035, 1979591, 33196989, 7913951 |
| Autoimmune Diseases |
Stimulate |
8778028 |
| Behcet Syndrome |
Associate |
15196263, 15654836, 15654837 |
| Biliary Tract Diseases |
Associate |
8666687 |
| Brain Neoplasms |
Associate |
25269047 |
| Breast Neoplasms |
Associate |
28591216, 30365075 |
| Buruli Ulcer |
Associate |
21072233 |
| Cachexia |
Associate |
35563712 |
| Carcinogenesis |
Associate |
12860287, 15957980, 17048249, 19568603, 27491302, 37694354 |
| Carcinogenesis |
Inhibit |
17457039 |
| Carcinoma Basal Cell |
Associate |
17048249, 28178129 |
| Carcinoma Hepatocellular |
Associate |
15810071, 26137588, 33307168, 36291095 |
| Carcinoma Non Small Cell Lung |
Associate |
28178129, 32986659 |
| Carcinoma Ovarian Epithelial |
Associate |
27460076 |
| Carcinoma Renal Cell |
Inhibit |
31112866 |
| Carcinoma Squamous Cell |
Associate |
31222140 |
| Cardiomyopathy Dilated |
Associate |
7901255 |
| Cardiovascular Diseases |
Associate |
32739154 |
| Carotid Stenosis |
Associate |
25654359 |
| Cerebral Infarction |
Associate |
21206505 |
| Cerebral Palsy |
Associate |
18571143 |
| Charcot Marie Tooth Disease Recessive Intermediate A |
Associate |
15708314 |
| Chlamydial Pneumonia |
Associate |
17848980 |
| Cholangiocarcinoma |
Stimulate |
23118872 |
| Cholangitis Sclerosing |
Stimulate |
8666687 |
| Chondroma |
Associate |
11079732 |
| Chronic Disease |
Associate |
18240224, 28976240 |
| Cicatrix |
Associate |
8809130 |
| Cognition Disorders |
Associate |
37211381 |
| Colitis Ulcerative |
Associate |
1424286, 22297444 |
| Colorectal Neoplasms |
Associate |
17457039, 20164542, 20433702, 23004678, 28347227, 33971488, 36499558 |
| Colorectal Neoplasms |
Stimulate |
21973086 |
| Connective Tissue Diseases |
Associate |
11048656 |
| Coronary Artery Disease |
Associate |
17052347, 18229457, 39445733 |
| Coronary Disease |
Associate |
16297172, 18320357 |
| COVID 19 |
Associate |
34975885 |
| Crohn Disease |
Stimulate |
1424286 |
| Crohn Disease |
Associate |
16618609 |
| Demyelinating Autoimmune Diseases CNS |
Associate |
18571143 |
| Dermatitis Atopic |
Associate |
22869467 |
| Dermatomyositis |
Associate |
18240224, 28183315 |
| Diabetes Mellitus |
Associate |
28591216, 29867058, 7913951 |
| Diabetes Mellitus |
Stimulate |
29134442 |
| Diabetes Mellitus Type 2 |
Associate |
18229457 |
| Diabetes Mellitus Type 2 |
Stimulate |
20067962 |
| Disease |
Associate |
10680751 |
| Drug Related Side Effects and Adverse Reactions |
Inhibit |
26700624, 31861692 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
28698656 |
| Esophageal Neoplasms |
Associate |
36889194 |
| Fanconi Anemia |
Associate |
34954697 |
| Gallbladder Neoplasms |
Associate |
33261560 |
| Gardner Syndrome |
Associate |
29682763 |
| Gastrointestinal Neoplasms |
Associate |
16618609 |
| Glaucoma Open Angle |
Associate |
30899261 |
| Glioblastoma |
Associate |
17233837, 27325206 |
| Glomerulonephritis IGA |
Associate |
10354275 |
| Graft vs Host Disease |
Associate |
35486633 |
| Heart Failure |
Associate |
22702715 |
| Hematologic Diseases |
Associate |
28698656 |
| Heredodegenerative Disorders Nervous System |
Associate |
18571143 |
| HIV Infections |
Stimulate |
23028910, 31779701 |
| Hypercholesterolemia |
Associate |
39445733 |
| Hypersensitivity Immediate |
Associate |
33196989 |
| Immune System Diseases |
Associate |
23028910 |
| Infections |
Associate |
10371470, 17052347, 1979591, 20876294, 37827383 |
| Inflammation |
Associate |
10021466, 15120829, 15654837, 21206505, 21889313, 22258649, 22869467, 23028910, 28976240, 29134442, 38087324, 8099471 |
| Inflammation |
Stimulate |
32876904 |
| Inflammatory Bowel Diseases |
Associate |
1424286 |
| Intracranial Arterial Diseases |
Associate |
17665428 |
| Kidney Diseases |
Stimulate |
18229449 |
| Kidney Neoplasms |
Inhibit |
31112866 |
| Leprosy Lepromatous |
Associate |
7524076 |
| Leukemia |
Associate |
20694586 |
| Leukemia Monocytic Acute |
Stimulate |
29134442 |
| Leukemia Myeloid Acute |
Associate |
24885082 |
| Leukodystrophy Hypomyelinating 2 |
Associate |
18571143 |
| Leukodystrophy Hypomyelinating 4 |
Associate |
18571143, 21717087, 33076433 |
| Leukodystrophy Metachromatic |
Associate |
18571143 |
| Lipid Metabolism Disorders |
Associate |
34557266 |
| Liver Cirrhosis Biliary |
Associate |
7526135 |
| Liver Cirrhosis Biliary |
Stimulate |
8666687 |
| Lung Neoplasms |
Associate |
19657000, 26700624, 28178129, 37694354 |
| Lupus Erythematosus Systemic |
Associate |
11048656, 8608642 |
| Lymphatic Metastasis |
Associate |
16253146, 25207654 |
| Lymphatic Metastasis |
Stimulate |
31222140, 37661276 |
| Lymphoma B Cell Marginal Zone |
Associate |
9708209 |
| Melanoma |
Associate |
21792879, 22872370 |
| Metaphyseal chondrodysplasia Schmid type |
Associate |
10383388 |
| Mitochondrial Diseases |
Associate |
11959456, 18086682, 21717087, 21769504, 26700624 |
| Mucocutaneous Lymph Node Syndrome |
Associate |
19950419 |
| Multiple Myeloma |
Associate |
22350072, 32155663 |
| Multiple Sclerosis |
Associate |
1374907 |
| Muscular Atrophy |
Associate |
35563712 |
| Myasthenia Gravis |
Associate |
22258649 |
| Mycobacterium Infections |
Associate |
21880973 |
| Mycobacterium Infections Nontuberculous |
Associate |
22042395 |
| Myocardial Ischemia |
Associate |
7901255 |
| Necrosis |
Associate |
17201177 |
| Neoplasm Metastasis |
Inhibit |
26948660 |
| Neoplasm Metastasis |
Associate |
29080556, 31222140 |
| Neoplasms |
Associate |
10663613, 14730689, 15791579, 15957980, 16253146, 17457039, 18086682, 22028587, 23082721, 23839491, 24099319, 25207654, 25265318, 26700624, 26810190, 27491302, 27836734, 28178129, 28183315, 30609639, 31112866, 31477750, 31963896, 32986659, 35292180, 37186587, 37661276, 37694354, 38087324 View all (14 more) |
| Neoplasms |
Inhibit |
17048249 |
| Neoplasms |
Stimulate |
32155663, 37087461 |
| Neoplasms Glandular and Epithelial |
Associate |
17048249 |
| Neuroblastoma |
Associate |
18797883, 30609639, 31963896 |
| Neurodegenerative Diseases |
Associate |
18571143, 21717087, 31444388, 31861692, 32739154 |
| Neurogenic Bowel |
Associate |
16253146 |
| Neuroinflammatory Diseases |
Associate |
39201760 |
| Neuromuscular Diseases |
Associate |
31444388 |
| Obesity |
Stimulate |
24986468 |
| Obesity |
Associate |
39593105 |
| Osteosarcoma |
Associate |
24015183 |
| Ovarian Diseases |
Associate |
39593105 |
| Ovarian Neoplasms |
Associate |
23429486, 25265318, 34557266, 37087461, 39593105 |
| Ovarian Neoplasms |
Stimulate |
31477750 |
| Pelizaeus Merzbacher Disease |
Associate |
18571143 |
| Pelizaeus Merzbacher like disease autosomal recessive 2 |
Associate |
18571143 |
| Periodontal Diseases |
Associate |
11882035, 11953387, 16542362 |
| Periodontitis |
Associate |
11882035, 11953387 |
| Periodontitis |
Stimulate |
16542362 |
| Plaque Atherosclerotic |
Associate |
10021466, 15699420 |
| Pneumonia Mycoplasma |
Associate |
15708314 |
| Polycystic Ovary Syndrome |
Associate |
34480296, 38256230 |
| Precancerous Conditions |
Associate |
27836734 |
| Prostatic Neoplasms |
Associate |
16705742, 23661456, 29682763, 35241511 |
| Prostatitis |
Associate |
17457039 |
| Pulmonary Disease Chronic Obstructive |
Associate |
17048249, 22140545, 22829758, 28976240 |
| Pyruvate Dehydrogenase Complex Deficiency Disease |
Associate |
29445841 |
| Q Fever |
Associate |
33072625 |
| Renal Insufficiency Chronic |
Stimulate |
24113772 |
| Renal Insufficiency Chronic |
Associate |
24347824 |
| Respiratory Distress Syndrome |
Stimulate |
22321564 |
| Rheumatic Diseases |
Associate |
11048656 |
| Rheumatic Heart Disease |
Associate |
24738046 |
| Rupture |
Associate |
29151033 |
| Sjogren's Syndrome |
Associate |
11048656 |
| Spastic paraplegia 13 autosomal dominant |
Associate |
18571143 |
| Spastic Paraplegia Hereditary |
Associate |
11898127, 18400758, 21717087, 31444388, 36316435 |
| Spondylitis Ankylosing |
Associate |
23424650, 23705835 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
31222140, 33232279, 37661276 |
| Status Asthmaticus |
Associate |
19913588 |
| Stomach Diseases |
Associate |
26810190 |
| Stomach Neoplasms |
Associate |
19203381, 25207654, 26646027, 26810190, 26928021, 27644641, 35635169 |
| Takayasu Arteritis |
Associate |
15544635, 17665428, 7906697 |
| Thrombosis |
Associate |
18759277 |
| Tongue Neoplasms |
Associate |
14730689 |
| Tuberculosis Pulmonary |
Associate |
22042395 |
| Urinary Bladder Neoplasms |
Associate |
12942564 |
| Uterine Cervical Neoplasms |
Associate |
19568603 |
| Vaginosis Bacterial |
Associate |
10371470 |
| Vascular Diseases |
Associate |
26078803 |
| Vascular System Injuries |
Associate |
7906697 |
| Ventricular Remodeling |
Associate |
31467116 |
| von Willebrand Disease Type 2 |
Associate |
25365350 |
| Vulvovaginitis |
Associate |
10371470 |
| Whooping Cough |
Stimulate |
21170113 |
|