| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs16860527, rs2293648 |
RCV005923584 RCV005895986 |
| Cervical cancer |
Benign; Likely benign |
rs114295497, rs61748247 |
RCV005921574 RCV005895992 |
| Cholangiocarcinoma |
Benign |
rs6433360, rs1574028 |
RCV005923204 RCV005895984 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs1574028 |
RCV005895985 |
| Colon adenocarcinoma |
Benign; Likely benign |
rs61748247 |
RCV005895990 |
| Colorectal cancer |
Likely benign |
rs780596840 |
RCV005935025 |
| Familial cancer of breast |
Benign; Likely benign |
rs61748247 |
RCV005895989 |
| Familial pancreatic carcinoma |
Benign |
rs1574028 |
RCV005895982 |
| ITGA6-related disorder |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs61757096, rs2737085, rs750078367, rs369555678, rs779091784, rs748713488, rs759525044, rs746830225, rs371882767, rs2468390180, rs373728387, rs74728869, rs200919733, rs138572695, rs143545213 |
RCV004757206 RCV003912399 RCV004757595 RCV003908995 RCV003901161 RCV003966505 RCV003966601 RCV003956517 RCV003929376 RCV003911435 RCV003952099 RCV003981910 RCV003970839 RCV003920650 RCV003978036 |
| Lung cancer |
Benign; Likely benign |
rs7588603, rs114295497, rs6433360, rs16860527, rs61748247 |
RCV005918134 RCV005921575 RCV005923205 RCV005923585 RCV005895996 |
| Lymphoma |
Benign |
rs1574028 |
RCV005895983 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs61748247 |
RCV005895991 |
| Melanoma |
Benign; Likely benign |
rs61748247 |
RCV005895995 |
| Nonpapillary renal cell carcinoma |
Benign |
rs1574028, rs2293648, rs61757097 |
RCV005895980 RCV005895987 RCV005895998 |
| Ovarian cancer |
Benign |
rs1574028 |
RCV005895981 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs7588603, rs61748247, rs61757097 |
RCV005918133 RCV005895994 RCV005895999 |
| Thymoma |
Benign |
rs2293648 |
RCV005895988 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs61757097 |
RCV005896001 |
| Uterine carcinosarcoma |
Benign |
rs61757097 |
RCV005896000 |
| Uterine corpus endometrial carcinoma |
Benign; Likely benign |
rs7588603, rs16860527, rs61748247, rs61757097 |
RCV005918135 RCV005923586 RCV005895997 RCV005903060 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma |
Associate |
34818353 |
| Adenocarcinoma of Lung |
Associate |
35029906 |
| Aicardi Syndrome |
Associate |
37040084 |
| Anemia Sickle Cell |
Associate |
32987729 |
| Arthritis Rheumatoid |
Associate |
9849316 |
| Arthropathy progressive pseudorheumatoid of childhood |
Associate |
8751975 |
| Asthma |
Associate |
29769273, 32494122 |
| Barrett Esophagus |
Associate |
34818353 |
| Blister |
Associate |
1694890 |
| Breast Neoplasms |
Associate |
22791584, 25269750, 25445919, 25450398, 26695635, 27001172, 27624978, 28084338, 29909039, 30850363, 32494122, 33500458, 34626053, 38250718 |
| Cap Myopathy |
Associate |
21820706 |
| Carcinoma |
Associate |
22331423 |
| Carcinoma Hepatocellular |
Associate |
24304619, 29425759 |
| Carcinoma Hepatocellular |
Stimulate |
35657344 |
| Carcinoma Non Small Cell Lung |
Associate |
35007184, 35447118 |
| Carcinoma Squamous Cell |
Associate |
26499463 |
| Carotid Artery Diseases |
Associate |
36959587 |
| Classical Lissencephalies and Subcortical Band Heterotopias |
Associate |
34347028 |
| Colorectal Neoplasms |
Associate |
26674523, 26895101, 30536996, 34257702 |
| COVID 19 |
Associate |
33413422 |
| Dermatitis Atopic |
Associate |
37540585 |
| Developmental Disabilities |
Associate |
34347028 |
| Diabetes Mellitus Type 2 |
Associate |
35898457 |
| Ectodermal Dysplasia |
Associate |
9185503 |
| Epidermolysis Bullosa |
Associate |
1694890, 9546354 |
| Epidermolysis Bullosa Junctional |
Associate |
8751975, 9158140 |
| Epidermolysis bullosa with pyloric atresia |
Associate |
15654962, 39322060, 9185503 |
| Esophageal Squamous Cell Carcinoma |
Associate |
31345182, 35835740, 36290884 |
| Familial duodenal atresia |
Associate |
9158140 |
| Glioblastoma |
Associate |
26992919, 30467961, 37821547 |
| Glioma |
Associate |
35044082 |
| Hemangiosarcoma |
Associate |
7682756 |
| Hirschsprung Disease |
Associate |
34471485 |
| Hodgkin Disease |
Associate |
21820706 |
| Inflammation |
Associate |
23570247 |
| Inflammatory Bowel Disease 25 Autosomal Recessive |
Associate |
34525210 |
| Leiomyosarcoma |
Inhibit |
7682756 |
| Leukemia |
Associate |
18831072, 23233446, 31894899 |
| Leukemia B Cell |
Associate |
18831072 |
| Leukemia Myeloid Acute |
Associate |
23233446, 26439029 |
| Leukemia Myeloid Acute |
Stimulate |
35289472 |
| Leukemia Plasma Cell |
Inhibit |
33785876 |
| Leukoplakia Hairy |
Associate |
10918561 |
| Lung Neoplasms |
Associate |
8080732 |
| Lymphatic Metastasis |
Associate |
25472585 |
| Lymphedema |
Associate |
33785876 |
| Lymphoma Follicular |
Associate |
20220060 |
| Melanoma |
Associate |
1991990 |
| Mental Disorders |
Associate |
26508570 |
| Multiple Myeloma |
Associate |
21820706, 33785876 |
| Multiple Sclerosis |
Inhibit |
9708801 |
| Muscular Dystrophy Duchenne |
Associate |
20382434, 32157826 |
| Mycosis Fungoides |
Associate |
1384339 |
| Myelodysplastic Syndromes |
Stimulate |
35289472 |
| Nasopharyngeal Carcinoma |
Associate |
12746479, 16306614, 30772768 |
| Neoplasm Metastasis |
Associate |
16306614, 22813880, 24304619, 30536996, 30772768, 30894280, 35168644, 40083708, 9846970 |
| Neoplasm Metastasis |
Inhibit |
33785876 |
| Neoplasms |
Associate |
20220060, 20353996, 22112299, 23450810, 23570247, 23593654, 24008095, 24091622, 25450398, 25472585, 26239765, 26311223, 26499463, 27001172, 28249895, 28328815, 28415821, 28494073, 29573114, 29909039, 31048929, 32934021, 34471485, 37392167, 37410084, 37821547, 38216092 View all (12 more) |
| Neoplasms |
Stimulate |
27624978 |
| Neoplasms |
Inhibit |
30772768 |
| Neurilemmoma |
Associate |
7682756 |
| Neuroblastoma |
Associate |
31406249 |
| Neurofibrosarcoma |
Inhibit |
7682756 |
| Neuroma Acoustic |
Associate |
33176868 |
| Osteoporotic Fractures |
Stimulate |
32602654 |
| Osteosarcoma |
Associate |
40083708 |
| Ovarian Neoplasms |
Associate |
20628624, 28328815, 35168644 |
| Pancreatic Neoplasms |
Associate |
19825166, 29764514, 30894280 |
| Paraproteinemias |
Associate |
33785876 |
| Paroxysmal ventricular fibrillation |
Stimulate |
32602654 |
| Pemphigoid Bullous |
Associate |
1694890 |
| Precursor B Cell Lymphoblastic Leukemia Lymphoma |
Stimulate |
18831072 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
18831072, 31894899 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
20220060 |
| Prostatic Neoplasms |
Associate |
17303120, 20651075, 23071686, 23106339, 23450810, 24497940, 25371445, 27509031, 28494073, 36095024 |
| Prostatitis |
Associate |
19938015, 23071686 |
| Pyloric Atresia |
Associate |
9546354 |
| Radiation Injuries |
Associate |
27624978 |
| Schizophrenia Childhood |
Associate |
26508570 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
28415821, 30431092, 34326893, 35820930, 39376501 |
| Squamous Cell Carcinoma of Head and Neck |
Stimulate |
33099569 |
| Squamous Intraepithelial Lesions |
Associate |
37410084 |
| Stomach Neoplasms |
Associate |
25472585 |
| Thymoma |
Associate |
8456937 |
| Triple Negative Breast Neoplasms |
Associate |
24008095, 24982892, 28084338, 37836626 |
| Uterine Cervical Neoplasms |
Associate |
27132080, 30908730, 37410084 |
| Uterine Cervical Neoplasms |
Stimulate |
30791957 |
|