| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs2296522 |
RCV005891526 |
| Adrenocortical carcinoma, hereditary |
Likely benign |
rs140378060 |
RCV005891532 |
| Cholangiocarcinoma |
Benign |
rs6699943 |
RCV005915179 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Likely benign |
rs140378060 |
RCV005891540 |
| Clear cell carcinoma of kidney |
Likely benign |
rs140378060 |
RCV005891533 |
| Colon adenocarcinoma |
Likely benign |
rs140378060 |
RCV005891529 |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
rs775139524 |
RCV004560293 |
| Familial cancer of breast |
Likely benign |
rs140378060 |
RCV005891528 |
| Familial prostate cancer |
- |
rs2101933749 |
RCV005930244 |
| Gastric cancer |
Benign; Likely benign |
rs6699943, rs140378060 |
RCV005915178 RCV005891536 |
| GLUL-related disorder |
Uncertain significance; Likely benign |
rs2101936697, rs760900804, rs776287282, rs113454052, rs140378060, rs2525587078, rs145595304, rs771286038, rs141126924 |
RCV004731172 RCV003401813 RCV003926645 RCV003953998 RCV003930210 RCV003404415 RCV003901802 RCV003899619 RCV003941542 |
| Glutamine related condition |
Uncertain significance |
rs2101936697 |
RCV001788835 |
| Lung cancer |
Benign; Likely benign |
rs6699943, rs140378060 |
RCV005915180 RCV005891539 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs6699943 |
RCV005915176 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs6699943, rs140378060 |
RCV005915175 RCV005891530 |
| Nonpapillary renal cell carcinoma |
Likely benign |
rs140378060 |
RCV005891531 |
| Ovarian serous cystadenocarcinoma |
Likely benign |
rs140378060 |
RCV005891537 |
| Sarcoma |
Benign; Likely benign |
rs6699943, rs140378060 |
RCV005915177 RCV005891535 |
| Squamous cell carcinoma of the head and neck |
- |
rs2101932398 |
RCV005930243 |
| Thymoma |
Likely benign |
rs140378060 |
RCV005891538 |
| Uterine carcinosarcoma |
Benign |
rs2296522 |
RCV005891527 |
| Uveal melanoma |
Likely benign |
rs140378060 |
RCV005891534 |
|
| Disease Name |
Relationship Type |
References |
| Adenoma Liver Cell |
Associate |
23807780, 24743216, 26961851, 27469330 |
| AIDS Associated Nephropathy |
Associate |
31805958 |
| Alzheimer Disease |
Associate |
26455863 |
| Angina Pectoris |
Associate |
26395743 |
| Angiomyolipoma |
Associate |
29512829 |
| Astrocytoma |
Associate |
21682567 |
| Atherosclerosis |
Associate |
35667160 |
| Autistic Disorder |
Associate |
29356297 |
| Autoimmune Diseases |
Associate |
36073000 |
| Barrett Esophagus |
Associate |
33491460 |
| Brain Diseases |
Associate |
18062818, 23384343 |
| Breast Neoplasms |
Associate |
36619229, 39795937 |
| Carcinoma Hepatocellular |
Associate |
11461082, 17275129, 18282277, 19101982, 22766792, 26107238, 27469330, 28662289, 29303508, 29512829, 29569872, 30176945, 31067445, 35187863, 37249521 |
| Carcinoma Renal Cell |
Associate |
37531433 |
| Cardiovascular Diseases |
Associate |
26395743 |
| Carotid Stenosis |
Associate |
21607540, 35667160 |
| Central Nervous System Vascular Malformations |
Associate |
16267323, 26836257 |
| Cerebral Palsy |
Associate |
15571623 |
| Chemical and Drug Induced Liver Injury |
Associate |
26107238 |
| Cognition Disorders |
Associate |
26455863 |
| Coronary Disease |
Associate |
25677913, 29304826, 32651240 |
| Death |
Associate |
25677913 |
| Dental Caries |
Associate |
20802180 |
| Dental Plaque |
Associate |
35667160 |
| Depressive Disorder Major |
Associate |
20386568 |
| Developmental Disabilities |
Associate |
39985170 |
| Diabetes Mellitus |
Associate |
7913951 |
| Diabetes Mellitus Type 1 |
Associate |
1370298, 21412422, 26631888, 29791073, 32882033, 36073000, 7913951, 8325989, 8423231 |
| Diabetes Mellitus Type 2 |
Associate |
25677913, 26395743, 34085602 |
| Diabetic Retinopathy |
Associate |
21412422 |
| Disease |
Associate |
39985170 |
| Embryo Loss |
Associate |
32888207 |
| Epilepsy |
Associate |
23410662 |
| Epilepsy Temporal Lobe |
Associate |
23384343 |
| Epileptic Encephalopathy Early Infantile 3 |
Associate |
39985170 |
| Epiretinal Membrane |
Associate |
16361676 |
| Fatty Liver Alcoholic |
Associate |
39350187 |
| Fibrosis |
Inhibit |
20583283 |
| Fibrosis |
Associate |
31391527 |
| Fibrosis |
Stimulate |
38250160 |
| Focal Nodular Hyperplasia |
Associate |
23807780 |
| Gastritis |
Associate |
21829393 |
| Glioblastoma |
Associate |
23410662, 26047211 |
| Glioma |
Associate |
32782394 |
| Glutamine deficiency congenital |
Associate |
16267323, 26836257, 32888207, 39985170 |
| Heart Failure |
Associate |
36254001 |
| Hepatic Encephalopathy |
Inhibit |
20583283 |
| Hepatic Veno Occlusive Disease |
Associate |
28061766 |
| Hepatoblastoma |
Associate |
28277286, 34235580 |
| HIV Infections |
Associate |
16687472 |
| Hyperammonemia |
Associate |
26599579, 32888207 |
| Inflammation |
Associate |
23807780, 36587392, 36619229 |
| Irritable Bowel Syndrome |
Inhibit |
19951903 |
| Latent Autoimmune Diabetes in Adults |
Associate |
39337639 |
| Leukemia |
Associate |
25697355, 33882633 |
| Liver Diseases |
Associate |
39868884 |
| Mental Disorders |
Associate |
23272063 |
| Movement Disorders |
Associate |
15571623 |
| Multiple Organ Failure |
Associate |
32888207 |
| Myocardial Infarction |
Associate |
26395743, 33354250 |
| Neoplasm Metastasis |
Associate |
28061766, 29671787 |
| Neoplasms |
Associate |
21852960, 23410662, 24743216, 26107238, 27469330, 29512829, 29642388, 32782394, 33882633, 34575972, 34583995, 36587392, 36619229, 37249521, 37531433, 38065270 View all (1 more) |
| Nerve Degeneration |
Associate |
26455863 |
| Neurologic Manifestations |
Associate |
26836257 |
| Obesity |
Associate |
34085602 |
| Oligodendroglioma |
Associate |
21682567, 29642388 |
| Ovarian Neoplasms |
Associate |
34260142 |
| Perinatal Death |
Associate |
16267323, 26836257 |
| Progressive Encephalomyelitis with Rigidity |
Associate |
39213470 |
| Prostatic Neoplasms |
Associate |
25431095 |
| Seizures |
Associate |
32888207, 39985170 |
| Small Cell Lung Carcinoma |
Associate |
26631888 |
| Status Epilepticus |
Associate |
37410995 |
| Stiff Person Syndrome |
Associate |
15571623, 39213470 |
| Stomach Neoplasms |
Associate |
37612301 |
| Stroke |
Associate |
21607540, 26395743, 35667160 |
|