| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Candidiasis, familial, 6 |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign |
rs144576902, rs769299818, rs1763973005, rs141798304, rs1763976446, rs550486674, rs766577007, rs536968854, rs137981743, rs2128267440, rs2128267452, rs374833689, rs371280410, rs1436156723, rs969467406, rs752517532, rs764517083, rs750915214, rs764500129, rs571639953, rs767452983, rs374814501, rs145598353, rs2128267832, rs1764017239, rs1764017856, rs142962486, rs2128268858, rs1488403842, rs780312510, rs765197624, rs889879171, rs775184787, rs2128267796, rs762219876, rs374838092, rs201369709, rs1274464224, rs535783581, rs759760136, rs555372013, rs1446649876, rs1035175728, rs530331585, rs1414979462, rs1232602156, rs751070725, rs2532689574, rs149025136, rs780259967, rs754476266, rs1331321771, rs2128267834, rs569473195, rs1582260891, rs1764016998, rs770953888, rs780766050, rs117796773, rs2532687364, rs1325665616, rs202158609, rs1442309467, rs772268344, rs746592495, rs1005482869, rs2532689865, rs571390206, rs2532687056, rs1238529220, rs2532687050, rs189630805, rs11465553, rs140679432, rs2532690014, rs2532689811, rs11465554, rs763780, rs2397084, rs2532687204, rs746645424, rs774716157, rs747960305, rs2532687287, rs1043002743, rs1764125615, rs376671742, rs1396005309, rs1953325, rs148940532, rs373228601, rs769617558, rs764936954, rs755388522, rs1192851440, rs771476465, rs113299618, rs767197513, rs754531850, rs748486078, rs6931727, rs11465552, rs1433771627, rs147873628, rs760922852, rs1582260865, rs772321235, rs748990409, rs972404643, rs1173562555, rs764026426, rs376780230, rs377717323, rs1764019547, rs1345707985, rs1015495067, rs1235526621, rs754360019, rs774103459, rs1764012735, rs144854652, rs1169477692, rs1042175463, rs1764019189, rs1763977355, rs201102127 View all (111 more) |
RCV001327195 RCV001318520 RCV001338958 RCV001340518 RCV001341910 RCV001344765 RCV001363432 RCV001454674 RCV001451270 RCV001489406 RCV001495415 RCV001489039 RCV001939836 RCV001943178 RCV002015076 RCV001918984 RCV001875382 RCV001864992 RCV001899950 RCV002025558 RCV001927761 RCV001914745 RCV001988577 RCV001949101 RCV001998998 RCV002046767 RCV001909269 RCV002016005 RCV001955134 RCV002009988 RCV002092571 RCV002177590 RCV002080438 RCV002111236 RCV002140194 RCV002170166 RCV002147623 RCV003083931 RCV002611969 RCV002647790 RCV003114991 RCV003121569 RCV003115875 RCV002631020 RCV002643173 RCV002800340 RCV002806009 RCV002766614 RCV002780492 RCV002834168 RCV002913030 RCV002900293 RCV002962494 RCV002999268 RCV003002672 RCV002994858 RCV003057662 RCV003033166 RCV003055838 RCV005099711 RCV000490407 RCV003142510 RCV003133699 RCV003641092 RCV003525518 RCV003526831 RCV003527151 RCV003527442 RCV003527581 RCV003526585 RCV003641640 RCV003641665 RCV003641565 RCV000312054 RCV000533921 RCV000375090 RCV003641844 RCV003640654 RCV000277771 RCV000369036 RCV000381916 RCV003640721 RCV003640813 RCV003641891 RCV003642052 RCV003642073 RCV003642358 RCV003642308 RCV003642201 RCV003641372 RCV000370210 RCV000648861 RCV000284057 RCV000272022 RCV000376143 RCV000336789 RCV003817482 RCV003815024 RCV003844766 RCV003857765 RCV003861257 RCV003872256 RCV000023553 RCV000558026 RCV000648862 RCV001466690 RCV000697976 RCV000690276 RCV000707054 RCV000817902 RCV000800724 RCV000802633 RCV001405548 RCV000942390 RCV001426574 RCV001045210 RCV001057068 RCV001053913 RCV001065751 RCV001047528 RCV001161955 RCV001163971 RCV001159050 RCV001163972 RCV001163973 RCV001215590 RCV001217422 RCV001220305 RCV001213344 RCV001233288 RCV001229184 RCV001228227 RCV001231704 RCV001238951 RCV001245270 |
| Familial pancreatic carcinoma |
Conflicting classifications of pathogenicity |
rs117796773 |
RCV005893887 |
| Gastric cancer |
Conflicting classifications of pathogenicity |
rs117796773 |
RCV005893888 |
| IL17F-related disorder |
Benign |
rs11465553 |
RCV003972504 |
|
| Disease Name |
Relationship Type |
References |
| Abortion Spontaneous |
Stimulate |
33731680 |
| Adenocarcinoma Follicular |
Associate |
19652218 |
| Arthritis Psoriatic |
Associate |
25146432, 29849482, 32138573, 34011674 |
| Arthritis Rheumatoid |
Associate |
19234208, 20618772, 25146432, 26062018, 28547498, 31316164, 37751416 |
| Arthritis Rheumatoid |
Stimulate |
27926504 |
| Asthma |
Associate |
11591768, 19251839, 20538817, 22312940, 22812194, 25394579, 27931975, 28474507, 28606156, 29968887, 31439682, 35325374 |
| Asthma |
Stimulate |
22312940, 30304965 |
| Atrophy |
Associate |
30961540 |
| Autism Spectrum Disorder |
Associate |
38288647 |
| Autoimmune Diseases |
Associate |
22184122, 26062018, 26620416, 30979797 |
| Axial Spondyloarthritis |
Associate |
36995469 |
| Breast Neoplasms |
Associate |
22461912 |
| Candidiasis Chronic Mucocutaneous |
Associate |
20123959, 21535082, 31784499 |
| Carcinoma Hepatocellular |
Associate |
34190694, 39873997 |
| Cardiomyopathies |
Associate |
28470012 |
| Chagas Cardiomyopathy |
Associate |
28470012 |
| Chagas Disease |
Associate |
28470012 |
| Chemical and Drug Induced Liver Injury |
Associate |
36483566 |
| Chronic Disease |
Associate |
20618772 |
| Chronic Periodontitis |
Associate |
23304063, 25525302, 26096103, 26924897, 37347817 |
| Colitis Ulcerative |
Associate |
29548809, 31191543 |
| Colorectal Neoplasms |
Associate |
25296730, 26083022, 26304506, 28347290, 29874787, 29970680, 36422171 |
| Colorectal Neoplasms |
Inhibit |
29548809 |
| Common Variable Immunodeficiency |
Associate |
32047491 |
| Complex Regional Pain Syndromes |
Associate |
31217010 |
| COVID 19 |
Associate |
34081354, 35264675, 36349054, 37483627 |
| COVID 19 |
Stimulate |
39493750 |
| Crohn Disease |
Associate |
26558270, 31191543, 33663574 |
| Cystic Fibrosis |
Associate |
15972674 |
| Cytokine Release Syndrome |
Associate |
33402994 |
| Dermatitis Allergic Contact |
Stimulate |
19785613 |
| Dermatitis Atopic |
Inhibit |
26682905 |
| Dermatitis Atopic 1 |
Associate |
25394579 |
| Dermatitis Atopic 3 |
Associate |
28606156, 29968887 |
| Dermatomyositis |
Associate |
27803134 |
| Diabetes Gestational |
Stimulate |
35304898 |
| Diabetes Mellitus |
Stimulate |
25363329 |
| Diabetes Mellitus |
Associate |
26400516 |
| Diabetes Mellitus Type 1 |
Associate |
26924897 |
| Diabetes Mellitus Type 2 |
Stimulate |
34079246 |
| Drug Hypersensitivity |
Associate |
11591768, 28606156 |
| Duodenal Diseases |
Associate |
23012664 |
| Endometriosis |
Associate |
21601196 |
| Enterocolitis Necrotizing |
Associate |
33663574 |
| Enterovirus Infections |
Associate |
29549443 |
| Familial antiphospholipid syndrome |
Associate |
27320770 |
| Fatigue Syndrome Chronic |
Associate |
25514671 |
| Fibrosis |
Associate |
30961540, 40332363 |
| Gout |
Inhibit |
26890073 |
| Graft vs Host Disease |
Inhibit |
36056390 |
| Granulosa cell tumor of the ovary |
Associate |
35325374 |
| Graves Disease |
Associate |
22816799 |
| Hashimoto Disease |
Associate |
22816799, 35767887 |
| Helicobacter Infections |
Stimulate |
21044126 |
| Helicobacter Infections |
Associate |
26151690 |
| Hematologic Neoplasms |
Associate |
37505775 |
| Hepatitis B |
Associate |
34190694, 37585994 |
| Hepatitis C Chronic |
Associate |
39873997 |
| Herpes Labialis |
Associate |
32735468 |
| Hidradenitis Suppurativa |
Associate |
37271319 |
| Hip Injuries |
Associate |
29194748, 31042000 |
| HIV Infections |
Associate |
30951887 |
| Hypoproteinemia |
Associate |
36483566 |
| Ichthyosis |
Stimulate |
29803800 |
| Idiopathic Noncirrhotic Portal Hypertension |
Associate |
34190694 |
| Infertility |
Associate |
39580416 |
| Infertility Female |
Associate |
39580416 |
| Inflammation |
Associate |
19251839, 20538817, 21479174, 22461912, 24621498, 25451162, 26151690, 28474507, 28606156, 28739826, 29194748, 30972071, 31379807, 32360069, 32737987, 33402994, 36422171, 37751416, 39675101, 39873997 View all (5 more) |
| Inflammation |
Stimulate |
33453290 |
| Inflammatory Bowel Diseases |
Associate |
33663574 |
| Keratoderma Palmoplantar |
Associate |
30484821 |
| Laryngeal Neoplasms |
Associate |
28362993 |
| Leprosy |
Associate |
35462022 |
| Leukemia Lymphocytic Chronic B Cell |
Associate |
26478573, 35511436 |
| Leukemia Lymphoma Adult T Cell |
Associate |
29794791 |
| Leukemia Myeloid Acute |
Associate |
24793548, 26191290, 37505775 |
| Liver Cirrhosis |
Associate |
40332363 |
| Lung Neoplasms |
Associate |
31059089 |
| Lupus Erythematosus Systemic |
Stimulate |
22038405 |
| Lupus Erythematosus Systemic |
Inhibit |
22184122 |
| Lupus Erythematosus Systemic |
Associate |
24433387, 24598455, 26079624, 26515887, 27320770, 33882880, 34596026 |
| Lupus Nephritis |
Associate |
26515887 |
| Lymphoma |
Associate |
35971833 |
| Lymphoma Large Cell Anaplastic |
Associate |
29588546 |
| Lymphoma Mantle Cell |
Associate |
33648463 |
| Lymphoma T Cell Cutaneous |
Associate |
20233883, 23801634, 29794791, 35971833 |
| Malaria Cerebral |
Associate |
26667835 |
| Mucocutaneous Lymph Node Syndrome |
Stimulate |
25605650, 37610270 |
| Multiple Sclerosis |
Stimulate |
21189442 |
| Multiple Sclerosis Relapsing Remitting |
Stimulate |
35328606 |
| Mycosis Fungoides |
Associate |
24621498, 29794791 |
| Mycosis Fungoides |
Inhibit |
33170303 |
| Neointima |
Associate |
32723833 |
| Neoplasms |
Associate |
22142827, 22461912, 25012243, 26083022, 27993206, 28362993, 32047491, 37505775, 39873997 |
| Neoplasms |
Inhibit |
29970680 |
| Neutrophil Immunodeficiency Syndrome |
Associate |
20538817 |
| Neutrophilia Hereditary |
Associate |
25394579 |
| Obesity |
Associate |
32849611 |
| Obesity Maternal |
Stimulate |
35304898 |
| Osteoarthritis |
Associate |
25146432, 29194748, 30658595, 34054865 |
| Osteoarthritis Hip |
Associate |
29194748, 31042000 |
| Osteoarthritis Knee |
Associate |
30658595 |
| Osteomyelitis |
Associate |
32454789 |
| Osteosarcoma |
Associate |
32723833 |
| Pancreatic Neoplasms |
Associate |
22142827 |
| Pemphigoid Bullous |
Associate |
30484821, 33340282 |
| Pemphigus |
Associate |
30116153 |
| Peptic Ulcer |
Associate |
23012664 |
| Periodontitis |
Associate |
25525302, 26339129 |
| Persian Gulf Syndrome |
Associate |
25514671 |
| Personality Disorders |
Stimulate |
27144517 |
| Pleural Effusion |
Associate |
27586092 |
| Polyendocrinopathies Autoimmune |
Associate |
20123959, 21535082, 30979797 |
| Polyps |
Associate |
29548809 |
| Pre Eclampsia |
Associate |
26119194 |
| Prostatic Hyperplasia |
Associate |
27716046 |
| Prostatic Neoplasms |
Associate |
27716046, 32537467 |
| Psoriasis |
Associate |
29803800, 32360069, 37271319 |
| Pulmonary Disease Chronic Obstructive |
Stimulate |
21477350 |
| Pulmonary Disease Chronic Obstructive |
Associate |
25427574, 34079246 |
| Purpura Thrombocytopenic Idiopathic |
Stimulate |
25621490 |
| Purpura Thrombocytopenic Idiopathic |
Associate |
26620416 |
| Rectal Neoplasms |
Associate |
29874787 |
| Scleroderma Systemic |
Inhibit |
25136988 |
| Scleroderma Systemic |
Associate |
30641535 |
| Severe Acute Respiratory Syndrome |
Associate |
25394579, 29549443 |
| Sezary Syndrome |
Associate |
35971833 |
| Silicosis |
Associate |
25374205 |
| Sjogren's Syndrome |
Associate |
34596026 |
| Skin Diseases |
Associate |
24621498 |
| Spondylitis Ankylosing |
Associate |
29849482, 32360069, 34290697, 34744511 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
36529525 |
| Status Asthmaticus |
Associate |
11591768, 28606156, 32849611 |
| Stomach Neoplasms |
Associate |
24218334, 25012243, 26261639, 26535650, 27097946, 27525907 |
| Stomatitis Aphthous |
Associate |
33351682 |
| Sutton disease 2 |
Associate |
33351682 |
| Thrombocytopenia |
Associate |
26620416 |
| Thyroid Neoplasms |
Associate |
23867310 |
| Thyroiditis Autoimmune |
Associate |
22816799, 35767887 |
| Tn Syndrome |
Associate |
35511436 |
| Tuberculosis |
Associate |
25363329, 26345782, 27339100 |
| Tuberculosis Meningeal |
Associate |
26045845 |
| Tuberculosis Pulmonary |
Associate |
26045845, 27339100, 36483566 |
| Ulcer |
Associate |
23012664 |
| Urinary Bladder Neoplasms |
Stimulate |
27716046 |
| Uterine Cervical Neoplasms |
Associate |
23049595, 25596084, 26464720, 26505366 |
| Uveitis |
Stimulate |
27028890 |
| Uveitis Anterior |
Associate |
31763950 |
| Ventricular Dysfunction Left |
Associate |
28470012 |
|