| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Abnormal cerebral morphology |
Likely pathogenic |
rs2115592556, rs1230123411, rs781082812 |
RCV002275912 RCV002276344 RCV002275467 |
| ASNS-related disorder |
Pathogenic; Likely pathogenic |
rs1792123022, rs373645939 |
RCV004731304 RCV004755930 |
| Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome |
Likely pathogenic; Pathogenic |
rs2115755676, rs1488937281, rs774808316, rs2115616730, rs797045306, rs747624770, rs1791584683, rs866033169, rs1166271142, rs2115654584, rs1399973379, rs2115649690, rs1183100703, rs201209327, rs2484630568, rs797045307, rs2484636291, rs2484640849, rs2484630455, rs2484637035, rs2484636604, rs1197097532, rs769360935, rs568570377, rs773348232, rs769236847, rs373645939, rs780288372, rs759224338, rs1554350554, rs948326794, rs1481539409, rs1562817048, rs1584458744, rs552452349, rs373774032, rs1791857109, rs1791277284, rs1791258447, rs757729851, rs750420071, rs398122973, rs398122974, rs398122975, rs1791383191 View all (30 more) |
RCV001826128 RCV005038197 RCV001806244 RCV001780647 RCV001806448 RCV001806449 RCV003225983 RCV002307802 RCV004798935 RCV002282616 RCV003992600 RCV002284991 RCV002288413 RCV002510370 RCV005032346 RCV000193384 RCV003130394 RCV003226043 RCV003226880 RCV003226881 RCV003324266 RCV004701751 RCV005636991 RCV005033945 RCV001833514 RCV000714524 RCV005034018 RCV000503815 RCV002244973 RCV000625792 RCV000656456 RCV000656457 RCV000761483 RCV000985226 RCV000985208 RCV000984516 RCV001255830 RCV005036327 RCV002489588 RCV001090001 RCV003155373 RCV002497763 RCV001265595 RCV000077748 RCV000077749 RCV000077750 RCV001283833 |
| Gastric cancer |
Likely pathogenic; Pathogenic |
rs769236847 |
RCV005896681 |
| Neurodevelopmental delay |
Pathogenic; Likely pathogenic |
rs2115753664, rs769236847 |
RCV002274316 RCV002274029 |
| Pancreatic adenocarcinoma |
Likely pathogenic; Pathogenic |
rs769236847 |
RCV005896680 |
| Spinocerebellar ataxia, autosomal recessive 29 |
Likely pathogenic |
rs774808316 |
RCV004813181 |
|
|
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
31551255 |
| Atrophy |
Associate |
26318253 |
| Barrett Esophagus |
Associate |
33491460 |
| Blindness Cortical |
Associate |
27422383 |
| Brain Diseases |
Associate |
25227173, 32481472 |
| Carcinoma Hepatocellular |
Inhibit |
28629319 |
| Carcinoma Hepatocellular |
Associate |
28629319, 30176945, 32746792 |
| Carcinoma Pancreatic Ductal |
Associate |
37814011 |
| Diabetic Foot |
Associate |
38287255 |
| Drug Hypersensitivity |
Associate |
24907114 |
| Esophageal Squamous Cell Carcinoma |
Associate |
32174781 |
| Hyperekplexia |
Associate |
27422383 |
| Leukemia |
Associate |
17380207, 19414379, 21972289, 34535013 |
| Leukemia Biphenotypic Acute |
Associate |
37839090 |
| Microcephaly |
Associate |
25227173, 27422383, 32481472 |
| Mitochondrial Myopathies |
Stimulate |
35850946 |
| Nasopharyngeal Carcinoma |
Associate |
23956056 |
| Neoplasm Metastasis |
Stimulate |
32174781 |
| Neoplasms |
Associate |
30061420, 37111157 |
| Neoplasms |
Stimulate |
32174781 |
| Neoplasms Second Primary |
Associate |
32447501 |
| Osteosarcoma |
Associate |
37528150 |
| Ovarian Neoplasms |
Associate |
18852115 |
| Pancreatitis |
Associate |
24907114 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
17380207, 19054556, 21972289, 28003999 |
| Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate |
34535013, 37280363, 37839090 |
| Prostatic Neoplasms |
Associate |
38206293 |
| Pulmonary Disease Chronic Obstructive |
Associate |
37710311 |
| Rectal Neoplasms |
Associate |
24729124 |
|