| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Colon adenocarcinoma |
Benign |
rs191098913 |
RCV005933449 |
| DMBT1-related disorder |
Likely benign; Benign; Uncertain significance |
rs559027701, rs189478437, rs199638381, rs190602319, rs549068481, rs199506530, rs144244700, rs148720177, rs28493439, rs202031071, rs372991622, rs2097821479, rs149788698, rs75209396, rs189221852, rs370908594, rs757709225, rs200418093, rs76568846, rs2277244, rs551305593, rs1426277963, rs78618280, rs185045706, rs200589297, rs112645522, rs749462692, rs75610148, rs759583388, rs1591296704, rs189226060, rs563255039, rs368566929, rs572119448, rs148891350, rs373868062, rs187566620, rs191098913, rs535950821, rs2277242, rs138842806, rs3980980, rs187427297, rs192235573, rs368426889 View all (30 more) |
RCV003919093 RCV003954116 RCV003906727 RCV003919094 RCV003894562 RCV003909338 RCV003909503 RCV003919708 RCV003924013 RCV003914725 RCV003917276 RCV003894450 RCV003904206 RCV003916790 RCV003916798 RCV003977211 RCV003979445 RCV003979477 RCV003909621 RCV003914129 RCV003941865 RCV003959808 RCV003917081 RCV003919503 RCV003931603 RCV003927129 RCV003917270 RCV003949664 RCV003949827 RCV003944511 RCV003924501 RCV003937192 RCV003949241 RCV003934397 RCV003954582 RCV003976778 RCV003957387 RCV003971442 RCV003969427 RCV003976288 RCV003936060 RCV003958224 RCV003958225 RCV003968313 RCV003970406 |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
rs745679762 |
RCV004560231 |
| Hereditary breast ovarian cancer syndrome |
Uncertain significance |
rs377585441 |
RCV001374480 |
|
| Disease Name |
Relationship Type |
References |
| Adenomatous Polyposis Coli |
Associate |
37565794 |
| Allergic Fungal Sinusitis |
Associate |
33755113 |
| Brain Neoplasms |
Associate |
10551316, 11563989, 23439307, 29287594, 9888459 |
| Brain Neoplasms |
Inhibit |
23691218 |
| Breast Neoplasms |
Inhibit |
15301691 |
| Breast Neoplasms |
Associate |
23107584, 29287594, 32734521 |
| Carcinogenesis |
Associate |
10551316 |
| Carcinoma Squamous Cell |
Associate |
31400059, 38037123 |
| Colitis |
Associate |
26813944 |
| Colitis Ulcerative |
Associate |
23691218, 37322958 |
| Colorectal Neoplasms |
Associate |
27182161 |
| Colorectal Neoplasms |
Inhibit |
9888459 |
| COVID 19 |
Associate |
40149929 |
| Craniosynostoses |
Associate |
33755113 |
| Crohn Disease |
Associate |
17548659, 19189310, 20155851, 23691218, 24223725 |
| Dental Caries |
Associate |
11007786, 11563989, 17562017 |
| Dry Eye Syndromes |
Associate |
27436115 |
| Duodenal Neoplasms |
Associate |
37565794 |
| Endocarditis Bacterial |
Stimulate |
19698862 |
| Esophageal Squamous Cell Carcinoma |
Inhibit |
9888459 |
| Ganglioglioma |
Associate |
18371186 |
| Gastritis |
Associate |
11007786 |
| Gastrointestinal Neoplasms |
Associate |
9888459 |
| Glioblastoma |
Associate |
10433932, 11438483, 15494095 |
| Glioma |
Associate |
11438483, 37115922 |
| Head and Neck Neoplasms |
Associate |
34717154 |
| Hypoxia |
Inhibit |
23122428 |
| Infant Newborn Diseases |
Associate |
11007786 |
| Infections |
Associate |
18641344 |
| Infections |
Stimulate |
23034003 |
| Infections |
Inhibit |
28489917 |
| Inflammation |
Associate |
23691218 |
| Inflammatory Bowel Diseases |
Associate |
23691218, 24223725 |
| Intestinal Diseases |
Associate |
22944598 |
| Lung Diseases |
Associate |
17908325 |
| Lung Neoplasms |
Inhibit |
10551316 |
| Lung Neoplasms |
Associate |
23122428 |
| Lymphatic Metastasis |
Associate |
31400059 |
| Melanoma |
Associate |
30672666 |
| Neoplasm Metastasis |
Associate |
30672666 |
| Neoplasms |
Inhibit |
11438483, 11563989, 15301691, 22944598, 30672666, 34717154, 34769520, 36352274, 9888459 |
| Neoplasms |
Associate |
18641344, 21483804, 23107584, 37565794 |
| Oligodendroglioma |
Associate |
11438483 |
| Oropharyngeal Neoplasms |
Associate |
36378845 |
| Ovarian Diseases |
Associate |
24390223 |
| Pancreatic Intraductal Neoplasms |
Associate |
18849643 |
| Pancreatic Neoplasms |
Stimulate |
18849643 |
| Peptic Ulcer |
Associate |
11007786 |
| Periodontal Diseases |
Associate |
29610270 |
| Persistent Vegetative State |
Associate |
19698862 |
| Polyps |
Associate |
33755113 |
| Precancerous Conditions |
Associate |
27182161 |
| Pseudomonas Infections |
Associate |
28489917 |
| Pterygium |
Inhibit |
34769520 |
| Respiratory Distress Syndrome |
Associate |
17908325 |
| Respiratory System Abnormalities |
Associate |
11007786 |
| Stomach Diseases |
Inhibit |
9888459 |
| Stomach Neoplasms |
Associate |
22944598, 26911362 |
| Stomach Neoplasms |
Inhibit |
9888459 |
| Thrombosis |
Associate |
19698862 |
|