| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs62381610, rs80036770 |
RCV005918346 RCV005894390 |
| Amyotrophic lateral sclerosis |
Uncertain significance |
rs2151961199, rs1755816787, rs758915987 |
RCV001843922 RCV001843923 RCV003994601 |
| Cervical cancer |
Benign; Likely benign; Uncertain significance |
rs80036770, rs774202102 |
RCV005894392 RCV005934705 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs145516036 |
RCV005898925 |
| Colon adenocarcinoma |
Benign |
rs756391139 |
RCV005869717 |
| Distal myopathy |
Likely benign; Uncertain significance; Benign |
rs368308621, rs767576295, rs59150359, rs144802057, rs886059992, rs773123084 |
RCV000401192 RCV000368354 RCV000324481 RCV000375989 RCV000346800 RCV000332600 |
| Distal myopathy with vocal cord weakness |
Uncertain significance |
rs539017488, rs1016579955 |
RCV005361777 RCV005359839 |
| Gastric cancer |
Benign; Likely benign |
rs80036770 |
RCV005894394 |
| Lung cancer |
Benign; Likely benign |
rs80036770 |
RCV005894396 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs62381610, rs80036770 |
RCV005918347 RCV005894391 |
| MATR3-related disorder |
Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign; not provided |
rs774158046, rs759928245, rs148487997, rs748749843, rs1318860923, rs1436744169, rs1344804460, rs780449728, rs766165466, rs766473689, rs1194022580, rs766117433, rs148402819, rs201165929, rs200664940, rs147239107, rs781050726, rs763167322, rs755491059, rs755083498, rs778447633, rs2546836764, rs780284796, rs1554146456, rs149714542, rs147356202, rs770765421, rs199797401, rs374819399, rs201075828, rs749235364, rs372039740, rs539542619, rs747688305, rs201970174, rs755732018, rs553687055 View all (22 more) |
RCV004536183 RCV004538753 RCV004531407 RCV004536569 RCV004725505 RCV004540533 RCV004536582 RCV004536428 RCV004736236 RCV004536764 RCV004534207 RCV004531739 RCV004530417 RCV004544656 RCV004735496 RCV004530416 RCV004530418 RCV004542298 RCV004539175 RCV004534657 RCV004534617 RCV004542404 RCV004544012 RCV000509251 RCV004538074 RCV004538073 RCV004544898 RCV004735754 RCV004540114 RCV004538106 RCV004735815 RCV004530857 RCV004735911 RCV004533663 RCV004735914 RCV004531025 RCV004735898 |
| Neurodegeneration |
Uncertain significance |
rs138894013 |
RCV003994419 |
| Ovarian cancer |
Benign |
rs145516036 |
RCV005898923 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs80036770, rs145516036 |
RCV005894395 RCV005898924 |
| Uterine corpus endometrial carcinoma |
Benign |
rs62381610 |
RCV005918348 |
| Uveal melanoma |
Benign; Likely benign |
rs80036770 |
RCV005894393 |
|
| Disease Name |
Relationship Type |
References |
| Adrenal Cortex Neoplasms |
Associate |
19849700 |
| Amyotrophic Lateral Sclerosis |
Associate |
24686783, 29511296, 30366341, 32731393, 37011198, 37381832, 37703175, 37722062 |
| Amyotrophic lateral sclerosis 1 |
Associate |
29128563 |
| Aneurysm |
Associate |
29929532 |
| Atrial Fibrillation |
Associate |
36952494 |
| Breast Neoplasms |
Associate |
32977861 |
| Carcinoma Hepatocellular |
Associate |
30637779 |
| Carcinoma Hepatocellular |
Stimulate |
38252499 |
| Colorectal Neoplasms |
Associate |
28580901 |
| Depressive Disorder Major |
Associate |
37098514 |
| Disease |
Associate |
38320753 |
| Distal Myopathies |
Associate |
19344878, 29511296, 37703175, 9837826 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
37703175 |
| Frontotemporal Dementia |
Associate |
24686783, 37011198 |
| Genetic Diseases Inborn |
Associate |
25948554 |
| Liver Neoplasms |
Associate |
29109432, 29128563, 30398641, 38320753 |
| Muscle Weakness |
Associate |
21683594 |
| Muscular Diseases |
Associate |
21683594, 25948554, 29511296 |
| Muscular Dystrophies |
Associate |
21683594 |
| Muscular Dystrophy Facioscapulohumeral |
Associate |
37703175 |
| Myopathy Distal 2 |
Associate |
19344878 |
| Myopathy Distal 2 |
Stimulate |
9837826 |
| Myopathy Reducing Body X Linked Childhood Onset |
Associate |
21683594 |
| Neoplasms |
Inhibit |
32977861 |
| Neurodegenerative Diseases |
Associate |
38320753 |
| Rectal Neoplasms |
Associate |
38012642 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
30320347 |
| Stroke |
Associate |
36952494 |
| Triple Negative Breast Neoplasms |
Inhibit |
32977861 |
|