| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs34594234, rs148518198 |
RCV005929918 RCV005901753 |
| Adrenocortical carcinoma, hereditary |
Benign; Likely benign |
rs34594234 |
RCV005929921 |
| Cervical cancer |
Benign; Likely benign |
rs34594234, rs34436700 |
RCV005929922 RCV005893829 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs34594234 |
RCV005929923 |
| Colon adenocarcinoma |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs34594234, rs148518198 |
RCV005929917 RCV005901752 |
| Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
Uncertain significance |
rs1410470158 |
RCV003325262 |
| Familial cancer of breast |
Uncertain significance |
rs200355697 |
RCV004596113 |
| Gastric cancer |
Benign; Likely benign |
rs2074565, rs34594234 |
RCV005915739 RCV005929926 |
| Hereditary breast ovarian cancer syndrome |
Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs35183950, rs10129646, rs184815928, rs35080917, rs17783124, rs1474939, rs34094401, rs200741476, rs375203676, rs34343730, rs755033108, rs548280411, rs140423456, rs149154702, rs34594234, rs33929366, rs34175580, rs146732812, rs2140082871, rs369949614, rs186629790, rs45568038, rs561626209, rs2140084406, rs2140084410, rs1275625911, rs898959583, rs764896402, rs28908468, rs34583846, rs17104744, rs114131734, rs61755650, rs181714884, rs773742806, rs371376587, rs758696568, rs892904253 View all (23 more) |
RCV002225879 RCV002225888 RCV002225894 RCV002225905 RCV002225910 RCV002225908 RCV002225909 RCV002226258 RCV002226259 RCV002226260 RCV002226261 RCV002226262 RCV002226263 RCV002226264 RCV002226265 RCV002226266 RCV002226267 RCV002226268 RCV002226269 RCV002226270 RCV002226271 RCV002226272 RCV002226273 RCV002226274 RCV002226275 RCV002226276 RCV002226277 RCV000416925 RCV002225696 RCV002225720 RCV002225769 RCV002225763 RCV002225761 RCV002225766 RCV001030514 RCV001030515 RCV001030580 RCV001030581 |
| Hereditary cancer |
Conflicting classifications of pathogenicity |
rs148518198 |
RCV005231301 |
| Hereditary cancer-predisposing syndrome |
Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance |
rs10129646, rs17783124, rs764896402, rs34436700, rs117190791, rs184721768, rs574178911, rs556371643, rs117405447, rs533348490, rs200355697, rs753393344, rs1009774288, rs34583846, rs190059291, rs28908168, rs548011714, rs1566901288, rs148518198, rs61758785 View all (5 more) |
RCV005629638 RCV005629650 RCV000708628 RCV000208920 RCV000209247 RCV000209693 RCV000209058 RCV000209385 RCV000209596 RCV000209097 RCV000210105 RCV000210170 RCV000708744 RCV000708742 RCV000708741 RCV000708743 RCV000708745 RCV000708746 RCV000708739 RCV000708740 |
| Lung cancer |
Benign; Likely benign; - |
rs34594234, rs368278073 |
RCV005929932 RCV005930677 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs2074565 |
RCV005915738 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs34594234 |
RCV005929919 |
| Melanoma |
Benign; Likely benign |
rs34594234 |
RCV005929931 |
| Nonpapillary renal cell carcinoma |
Benign; Likely benign |
rs34594234 |
RCV005929920 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs34594234 |
RCV005929927 |
| Poly (ADP-Ribose) polymerase inhibitor response |
Benign; Likely benign |
rs28908468 |
RCV000626451 |
| RAD51B-related disorder |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs548280411, rs745505141, rs181459801, rs199981178, rs116719491, rs11321834, rs773861877, rs1159240971, rs61758785, rs28910275 |
RCV003926331 RCV003906746 RCV003919117 RCV003909326 RCV003919733 RCV003906931 RCV003973926 RCV003974029 RCV003899418 RCV003917055 RCV003917085 RCV003919484 RCV003939433 RCV003939423 RCV003944764 RCV003922018 RCV003926953 RCV003946902 RCV003956738 RCV003962284 RCV003976572 RCV003976635 RCV003907962 RCV003940448 |
| Sarcoma |
Benign; Likely benign |
rs34594234, rs34436700 |
RCV005929925 RCV005893830 |
| Squamous cell lung carcinoma |
- |
rs1464701988 |
RCV005929880 |
| Thymoma |
Benign; Likely benign |
rs34594234 |
RCV005929929 |
| Thyroid cancer, nonmedullary, 1 |
Benign; Likely benign |
rs34594234 |
RCV005929930 |
| Uterine carcinosarcoma |
Benign; Likely benign |
rs2074565, rs34594234 |
RCV005915740 RCV005929928 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs34594234 |
RCV005929933 |
| Uveal melanoma |
Benign; Likely benign |
rs34594234 |
RCV005929924 |
|
| Disease Name |
Relationship Type |
References |
| Aneuploidy |
Stimulate |
27651161 |
| Arthritis Rheumatoid |
Associate |
24532676, 28361912, 36835215 |
| Asthma |
Associate |
31095684 |
| Brain Neoplasms |
Associate |
37878192 |
| Breast Neoplasms |
Associate |
19330030, 21593217, 21791674, 21844186, 21852249, 21959381, 22232737, 22313133, 22454379, 23190577, 23593120, 23635555, 24139550, 24325915, 24729084, 24743323, 24792587, 25255808, 26094658, 26472073, 27149063, 27467053, 27848153, 29255180, 29316957, 31780696, 32295201 View all (12 more) |
| Breast Neoplasms Male |
Associate |
23001122, 27149063 |
| Carcinogenesis |
Inhibit |
12441335 |
| Carcinoma Ovarian Epithelial |
Associate |
24190013, 26261251 |
| Carcinoma Pancreatic Ductal |
Associate |
35737913 |
| Carcinoma Squamous Cell |
Associate |
32098697 |
| Colorectal Neoplasms |
Associate |
35567913 |
| Corneal Neovascularization |
Associate |
24498017 |
| Fanconi Anemia |
Associate |
31584931 |
| Geographic Atrophy |
Associate |
24498017 |
| Glioma |
Associate |
20610542 |
| Glycogen Storage Disease Type II |
Associate |
24498017 |
| Gynecomastia |
Associate |
32295201 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
24139550, 29255180, 30535121, 33099839 |
| Inflammation |
Associate |
27683114 |
| Leiomyoma |
Associate |
23738515, 26787895 |
| Leiomyosarcoma |
Associate |
28514723, 38141829 |
| Leukemia |
Associate |
37286545 |
| Lymphatic Metastasis |
Associate |
27651161 |
| Macular Degeneration |
Associate |
23455636, 24526414, 26961928, 30535121, 31191752 |
| Nasopharyngeal Carcinoma |
Associate |
21368091 |
| Neoplasms |
Associate |
21852249, 26637267, 27467053, 27683114, 30489320, 31584931, 32234758, 32295201, 37344587, 37932833, 38141829, 38417742, 40421962 |
| Neoplasms |
Stimulate |
27651161 |
| Neoplasms |
Inhibit |
32669601 |
| Neoplasms Radiation Induced |
Associate |
36788076 |
| Ovarian Neoplasms |
Associate |
26261251, 29255180, 37344587, 38041901 |
| Pancreatic Neoplasms |
Associate |
39256447 |
| Parkinson Disease |
Associate |
28117402 |
| Perivascular Epithelioid Cell Neoplasms |
Associate |
38141829 |
| Pituitary Neoplasms |
Associate |
33622874 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Associate |
37286545 |
| Prostatic Neoplasms |
Associate |
26339569, 26964030, 32234758 |
| Prostatic Neoplasms Castration Resistant |
Associate |
35735442 |
| Recombinant chromosome 8 syndrome |
Associate |
35643464 |
| Rectal Neoplasms |
Associate |
31209889 |
| Retinal Dysplasia |
Associate |
32098697 |
| Sarcoma |
Associate |
38141829 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
27683114 |
| Stomach Diseases |
Associate |
27651161 |
| Stomach Neoplasms |
Associate |
27651161 |
| T Lymphocytopenia Idiopathic CD4 Positive |
Associate |
37344587 |
| Tooth Erosion |
Associate |
28361912 |
| Triple Negative Breast Neoplasms |
Associate |
21844186, 24325915 |
| Uterine Cervical Neoplasms |
Associate |
27334422, 27363024 |
|