| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Arrhythmogenic right ventricular cardiomyopathy |
Uncertain significance |
rs869025433 |
RCV000208406 |
| Cardiomyopathy |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs373259092, rs140148322, rs138189036, rs141208906, rs201189319, rs375234968, rs139644436, rs113188481, rs137869171, rs115841332, rs56284940, rs777846521, rs757222173, rs188279857, rs754744445 |
RCV000768815 RCV001171209 RCV001171211 RCV000768818 RCV000769833 RCV001171213 RCV000768817 RCV000768816 RCV000768814 RCV000768813 RCV001171212 RCV000769831 RCV000769832 RCV001170738 RCV001171210 |
| Cervical cancer |
Benign |
rs11537578, rs115841332 |
RCV005890266 RCV005890273 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs2244182 |
RCV005890281 |
| Clear cell carcinoma of kidney |
Benign |
rs11537578 |
RCV005890267 |
| Familial pancreatic carcinoma |
Benign |
rs2244182 |
RCV005890278 |
| FHL2-related cardiomyopathy |
Conflicting classifications of pathogenicity |
rs397517959 |
RCV005867826 |
| FHL2-related disorder |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs138189036, rs1217761513, rs750378109, rs371421189, rs199585402, rs199943518, rs397517960, rs137869171, rs56284940, rs777846521 |
RCV003965150 RCV003898897 RCV003427513 RCV003411448 RCV003945725 RCV003915001 RCV003974926 RCV003915002 RCV003934973 RCV004756030 |
| Hepatocellular carcinoma |
Benign |
rs11537578, rs2244182 |
RCV005890265 RCV005890276 |
| Left ventricular noncompaction cardiomyopathy |
Uncertain significance |
rs773266937 |
RCV000208122 |
| Lung cancer |
Benign |
rs11537578 |
RCV005890271 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs2244182 |
RCV005890279 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs11537578 |
RCV005890268 |
| Primary dilated cardiomyopathy |
Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity |
rs1231396526, rs983602593, rs752531815, rs552625336, rs369109946, rs371759004, rs570903247, rs1680417431, rs1680725217, rs753335287, rs1279971079, rs74575749, rs781170250, rs1682328689, rs1426474074, rs374383740, rs1233115186, rs1573267301, rs768230517, rs780800767, rs748658755, rs2104507065, rs1045935903, rs777732229, rs112533691, rs2104506293, rs2104477768, rs768709080, rs1208356626, rs766070936, rs1681256120, rs2104487265, rs758618755, rs982423684, rs2104477866, rs1255979544, rs1045395933, rs1210749693, rs1573266714, rs2104487279, rs371829274, rs1218219091, rs1681265871, rs750695509, rs755230829, rs745753003, rs140501334, rs758881698, rs761990478, rs76372678, rs1680246034, rs1278363053, rs137869171, rs140148322, rs138189036, rs727503060, rs727504674, rs141208906, rs2467138882, rs730880110, rs768464093, rs763291334, rs777181609, rs397517960, rs2467139261, rs779913648, rs533310258, rs1681251273, rs767774355, rs1217761513, rs768818976, rs2467175797, rs1033789814, rs750884671, rs903879732, rs756601082, rs750378109, rs770706113, rs898313629, rs1340905884, rs754663221, rs373978741, rs1573306617, rs773266937, rs200116659, rs750377257, rs2467138660, rs2467209511, rs2467209444, rs536715218, rs1440532005, rs1257906826, rs1398859254, rs764915908, rs2467152387, rs1355440403, rs2467208681, rs2467281622, rs1681257546, rs776981929, rs2467151455, rs752819256, rs2467151260, rs2467175370, rs1013627686, rs765651831, rs1356667717, rs750799536, rs781427423, rs1018740778, rs753388370, rs369765217, rs756076159, rs1680740003, rs2467208290, rs773356788, rs747844229, rs772913386, rs760104483, rs770284685, rs201189319, rs1553415161, rs371421189, rs755805016, rs765835400, rs375234968, rs780938900, rs144442113, rs750539692, rs906250700, rs199585402, rs11537578, rs199943518, rs139644436, rs397517959, rs113188481, rs2278502, rs115841332, rs2244182, rs3087523, rs11124029, rs56284940, rs777846521, rs757222173, rs769888361, rs1573274516, rs1009986435, rs780774664, rs149138019, rs1470032926, rs1196386664, rs539301452, rs1462640060, rs1573341781, rs1573266848, rs767220225, rs1680249986, rs534279240, rs1682314685, rs188279857, rs754744445, rs145070796, rs373259092, rs1681246655, rs745717988, rs753660280, rs201826187, rs1682322677 View all (153 more) |
RCV001312282 RCV001314431 RCV001323679 RCV001327622 RCV001322485 RCV001345823 RCV001344636 RCV001339198 RCV001338695 RCV001338849 RCV001365220 RCV001365260 RCV001362954 RCV001373025 RCV001434734 RCV001447356 RCV001447406 RCV001493638 RCV001479506 RCV001488827 RCV001516051 RCV002010117 RCV001941754 RCV001921041 RCV002019464 RCV001898093 RCV002049133 RCV001886868 RCV001985382 RCV001989710 RCV002020684 RCV001885651 RCV001925384 RCV001889198 RCV002026801 RCV001946209 RCV001917111 RCV001920236 RCV001960835 RCV002196489 RCV002102342 RCV002168447 RCV002130817 RCV002103895 RCV002191564 RCV002132559 RCV002147769 RCV002094434 RCV002103406 RCV002092208 RCV002166717 RCV002122727 RCV002118923 RCV002144923 RCV001238155 RCV000546432 RCV002056057 RCV001850048 RCV000535396 RCV000862093 RCV000468337 RCV002294806 RCV000157238 RCV003076458 RCV003065422 RCV003077264 RCV003078901 RCV003079409 RCV003081798 RCV003092731 RCV002615136 RCV002637944 RCV002640330 RCV002628524 RCV002647024 RCV002750163 RCV002780951 RCV002820327 RCV002815936 RCV002890910 RCV002917185 RCV002929087 RCV002971164 RCV002974969 RCV002982943 RCV003007641 RCV003048263 RCV003509515 RCV000463516 RCV003509772 RCV000227762 RCV003225261 RCV003510522 RCV003511023 RCV003510895 RCV003511093 RCV003511061 RCV003511115 RCV003509101 RCV003509138 RCV003509171 RCV003509384 RCV003510200 RCV003510201 RCV003510249 RCV003620007 RCV003620082 RCV003620677 RCV003620861 RCV003620884 RCV003621004 RCV003621008 RCV003621032 RCV003621184 RCV003621318 RCV003621484 RCV003619335 RCV003619608 RCV003620181 RCV003620338 RCV003620419 RCV003814706 RCV003859208 RCV003880712 RCV001489585 RCV000477413 RCV002524013 RCV000550274 RCV000553142 RCV000542795 RCV000558402 RCV000547227 RCV000533031 RCV000532346 RCV001036798 RCV000799153 RCV002531672 RCV001402740 RCV000628801 RCV000704591 RCV000688731 RCV000706871 RCV000704166 RCV000232934 RCV000531538 RCV000463154 RCV000703091 RCV000557508 RCV000205480 RCV000230608 RCV002054834 RCV000458869 RCV002054835 RCV001510993 RCV001521362 RCV000469953 RCV000805165 RCV002067212 RCV000793612 RCV000796763 RCV000818163 RCV000807421 RCV000809439 RCV000794336 RCV000853142 RCV000868244 RCV001413477 RCV000911544 RCV001480510 RCV000929826 RCV001045969 RCV001050417 RCV001071765 RCV001203093 RCV001859104 RCV001219457 RCV001210028 RCV001235807 RCV001234966 RCV001242442 RCV001299113 RCV001305120 RCV001302746 |
| Primary familial hypertrophic cardiomyopathy |
Uncertain significance |
rs765271517 |
RCV000208288 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs11537578 |
RCV005890270 |
| Uterine carcinosarcoma |
Benign |
rs11537578, rs115841332, rs2244182 |
RCV005890269 RCV005890274 RCV005890280 |
| Uterine corpus endometrial carcinoma |
Benign |
rs11537578, rs115841332 |
RCV005890272 RCV005890275 |
| Uveal melanoma |
Benign |
rs2244182 |
RCV005890277 |
|
| Disease Name |
Relationship Type |
References |
| Amenorrhea |
Associate |
25747126 |
| Aortic Valve Stenosis |
Associate |
37175670 |
| Atrial Fibrillation |
Associate |
32682418 |
| Breast Neoplasms |
Inhibit |
14550570 |
| Breast Neoplasms |
Associate |
18853468 |
| Carcinogenesis |
Associate |
18752053, 18853468, 32236623 |
| Carcinoma Hepatocellular |
Associate |
32236623 |
| Carcinoma Ovarian Epithelial |
Associate |
15161045 |
| Cardiomyopathies |
Associate |
32344918 |
| Cardiomyopathy Hypertrophic |
Associate |
32344918 |
| Colorectal Neoplasms |
Associate |
23756870 |
| COVID 19 |
Associate |
35866388, 38203523 |
| Diabetes Mellitus Type 2 |
Associate |
27029739 |
| Dyslipidemias |
Associate |
36901761 |
| Esophageal Squamous Cell Carcinoma |
Associate |
33787085, 36289198 |
| Fever |
Associate |
16825436 |
| Gastrointestinal Neoplasms |
Associate |
18752053 |
| Genital Neoplasms Female |
Associate |
15161045 |
| Graves Disease |
Associate |
28725932 |
| Hematologic Diseases |
Associate |
16825436 |
| Hepatoblastoma |
Stimulate |
12466281 |
| Idiopathic Pulmonary Fibrosis |
Associate |
37783761 |
| Infections |
Stimulate |
38203523 |
| Leukemia |
Associate |
28402264 |
| Leukemia Myeloid Acute |
Associate |
28402264 |
| Liver Neoplasms |
Stimulate |
12466281 |
| Lung Neoplasms |
Stimulate |
36227138 |
| Lymphohistiocytosis Hemophagocytic |
Associate |
15466010, 15632205, 16778144, 17674359, 19884660, 21152410, 22186995, 22796692, 22970278, 29410181, 32375849, 33746956 |
| Lymphohistiocytosis Hemophagocytic |
Stimulate |
26342526 |
| Metabolic Diseases |
Associate |
36901761 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate |
21248318 |
| Neoplasm Metastasis |
Associate |
23756870, 34511489, 36227138 |
| Neoplasms |
Associate |
12466281, 14550570, 18752053, 23086815, 23756870, 25540819, 28662101 |
| Osteoarthritis |
Associate |
18224250 |
| Ovarian Neoplasms |
Associate |
15161045, 31896750 |
| Prostatic Neoplasms |
Associate |
15692560, 19164447 |
| Prostatic Neoplasms Castration Resistant |
Associate |
26603105 |
| Rhabdomyosarcoma |
Inhibit |
12145280 |
| Splenomegaly |
Associate |
16825436 |
| Stomach Neoplasms |
Associate |
18752053 |
| Uterine Cervical Neoplasms |
Associate |
26973248 |
| Vascular Diseases |
Associate |
22049082 |
| Waldenstrom Macroglobulinemia |
Associate |
33764527 |
|