| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| ACACA-related disorder |
Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance |
rs140628687, rs148586245, rs17848759, rs139772228, rs751920161, rs6607364, rs372559158, rs145228147, rs147833219, rs199873625, rs770428631, rs192767080, rs199767518, rs766878038, rs149049072, rs61743749, rs551534773, rs771495558, rs867660985, rs146088438, rs149182938, rs777992403, rs367784761, rs781599443, rs201442473, rs542037525, rs141608509, rs55811414, rs192888791, rs148549486, rs147020148, rs2229416, rs184995115, rs111441513, rs200301970 View all (20 more) |
RCV003918875 RCV003958754 RCV003911164 RCV003926284 RCV004758232 RCV004758233 RCV003961079 RCV003973485 RCV003916536 RCV004731295 RCV003916539 RCV003929359 RCV003949032 RCV003949072 RCV003981182 RCV003909211 RCV003973862 RCV003927207 RCV003941731 RCV003949558 RCV003924514 RCV003949428 RCV003969321 RCV003936805 RCV003936872 RCV003934637 RCV003918117 RCV003918118 RCV003980304 RCV003918119 RCV003938031 RCV003928164 RCV003983165 RCV003938032 RCV003938033 RCV003936264 |
| Acute myeloid leukemia |
Benign |
rs6607364 |
RCV005901556 |
| Cervical cancer |
Benign |
rs6607364 |
RCV005901558 |
| Hereditary breast ovarian cancer syndrome |
Uncertain significance |
rs2146590612 |
RCV001374522 |
| Lung cancer |
Benign |
rs6607364 |
RCV005901561 |
| Malignant tumor of esophagus |
Benign |
rs6607364 |
RCV005901557 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs6607364 |
RCV005901559 |
| Uterine carcinosarcoma |
Benign |
rs6607364 |
RCV005901560 |
| Uterine corpus endometrial carcinoma |
Benign |
rs6607364 |
RCV005901562 |
|
| Disease Name |
Relationship Type |
References |
| 46 Xy Gonadal Dysgenesis Partial With Minifascicular Neuropathy |
Stimulate |
28125642 |
| Alzheimer Disease |
Associate |
22982105 |
| Breast Neoplasms |
Associate |
17157792, 17631500, 18056116, 26632252, 27506935 |
| Carcinogenesis |
Associate |
35449157 |
| Carcinoma Adenoid Cystic |
Associate |
35032368 |
| Carcinoma Hepatocellular |
Associate |
25735330, 25826294, 30841449, 34311471, 34981667, 35449157, 36456877, 40389832 |
| Carcinoma Pancreatic Ductal |
Associate |
23159620 |
| Carcinoma Renal Cell |
Associate |
28984208 |
| Cataract |
Associate |
37511188 |
| Central Nervous System Diseases |
Associate |
35633176 |
| Cholangiocarcinoma |
Associate |
36972768 |
| Colorectal Neoplasms |
Associate |
30809968, 35067161, 36328987 |
| Death |
Associate |
25826294 |
| Diabetes Gestational |
Associate |
28125642 |
| Diabetes Mellitus Type 2 |
Associate |
19390150, 21172433 |
| Diabetes Mellitus Type 2 |
Inhibit |
19543203 |
| Diabetic Nephropathies |
Associate |
31573977 |
| Ectodermal Dysplasia |
Associate |
32070410 |
| Fatty Liver |
Associate |
24603540, 25474087, 36251517, 37002924 |
| Fibrosis |
Associate |
36251517 |
| Gerstmann Syndrome |
Associate |
25227797, 25735330, 25826294, 35162967 |
| Glioma |
Associate |
34573317 |
| Head and Neck Neoplasms |
Associate |
33274210 |
| Hypercholesterolemia |
Associate |
19846279 |
| Hypertriglyceridemia |
Associate |
19846279 |
| Hypoxia |
Associate |
26452058 |
| Inflammation |
Inhibit |
26718495 |
| Insulin Resistance |
Associate |
19390150 |
| Leukemia Myeloid Acute |
Associate |
36355448 |
| Leukopenia |
Associate |
31692082 |
| Lung Neoplasms |
Associate |
38066059, 38069382 |
| Mitochondrial Diseases |
Associate |
36410440 |
| Neoplasm Metastasis |
Associate |
26632252 |
| Neoplasms |
Associate |
21184748, 25246709, 26452058, 28546520, 30372889, 35247885, 36355448 |
| Neurodegenerative Diseases |
Associate |
35633176 |
| Non alcoholic Fatty Liver Disease |
Associate |
36771140, 37002924 |
| Obesity |
Inhibit |
19543203, 26694359, 36371454 |
| Obesity |
Associate |
21184748 |
| Prostatic Neoplasms |
Associate |
32258129, 36410440, 37845385, 38049827 |
| Prostatic Neoplasms Castration Resistant |
Associate |
36410440 |
| Renal Insufficiency Chronic |
Associate |
31257514, 31692082 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
24769813 |
| Stomach Neoplasms |
Inhibit |
26520441 |
| Thalassemia |
Associate |
36861191 |
| Thrombocytopenia |
Associate |
31692082 |
| Tuberculosis |
Associate |
31692082 |
| Urinary Bladder Neoplasms |
Associate |
34418989 |
|