| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Clear cell carcinoma of kidney |
Benign |
rs143674254 |
RCV005905238 |
| EBV-positive nodal T- and NK-cell lymphoma |
Likely benign |
rs2074236485 |
RCV004557907 |
| Gastric cancer |
Likely benign |
rs147417729 |
RCV005933467 |
| Prostate cancer |
Uncertain significance |
rs150063446 |
RCV000149336 |
| PTPRD-related disorder |
Benign; Uncertain significance; Likely benign |
rs10977171, rs368787989, rs183119115, rs142228841, rs61733168, rs145325302, rs146973770, rs12346849, rs201761674, rs138805005, rs2281747, rs3763653, rs373588955, rs2551854134, rs150856940, rs201122675, rs200683418, rs137892356, rs140976651, rs146589803, rs12344148, rs73426355, rs73426359, rs372913161, rs200537516, rs41281787, rs7869444, rs150444130, rs754865178, rs145303203, rs370343083, rs7026388, rs74945428, rs147417729, rs35929428, rs3824417, rs12351899, rs75966719, rs138755135, rs7865681, rs61733195, rs144111555, rs61733170, rs151005956, rs147878183, rs140620944, rs117049052, rs61733191, rs115415584, rs192554695, rs142871508, rs113643326, rs139810753 View all (38 more) |
RCV003968416 RCV003419036 RCV003919225 RCV003939034 RCV003919226 RCV003946615 RCV003921499 RCV003919606 RCV003981678 RCV003981772 RCV003984792 RCV003982511 RCV003977110 RCV003982324 RCV003911544 RCV003933954 RCV003941882 RCV003942111 RCV003944169 RCV003959718 RCV003919524 RCV003931453 RCV003931573 RCV003951603 RCV003961446 RCV003951548 RCV003971362 RCV003936815 RCV003942166 RCV003949108 RCV003944674 RCV003982105 RCV003947288 RCV003962050 RCV003976479 RCV003925905 RCV003916129 RCV003972851 RCV003935986 RCV003928458 RCV003916138 RCV003905964 RCV003920738 RCV003930780 RCV003940430 RCV003968377 RCV003920854 RCV003950698 RCV003912874 RCV003902854 RCV003920849 RCV003960717 RCV003918634 |
| Sarcoma |
Benign |
rs143674254 |
RCV005905239 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs143674254 |
RCV005905240 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
18948947, 33979320 |
| Alzheimer Disease |
Associate |
35627222, 36553611 |
| Astrocytoma |
Associate |
35982066 |
| Attention Deficit Disorder with Hyperactivity |
Associate |
19546859 |
| Breast Neoplasms |
Associate |
25570853 |
| Calcinosis Cutis |
Associate |
23800680 |
| Carcinogenesis |
Associate |
25412184 |
| Carcinoma Hepatocellular |
Associate |
22326833, 28159835 |
| Carcinoma Large Cell |
Associate |
35641209 |
| Carcinoma Non Small Cell Lung |
Associate |
34615542, 35603359, 35798829, 37602864 |
| Carcinoma Renal Cell |
Associate |
21387281 |
| Carcinoma Squamous Cell |
Associate |
17420988, 28099906 |
| Carcinoma Squamous Cell |
Inhibit |
19131950 |
| Colonic Neoplasms |
Associate |
25113440 |
| Colorectal Neoplasms |
Associate |
23975090 |
| Coronary Artery Disease |
Associate |
22216278 |
| COVID 19 |
Associate |
39457114 |
| Death |
Associate |
26755275 |
| Desmoplastic Small Round Cell Tumor |
Associate |
25119929 |
| Developmental Disabilities |
Associate |
31088393 |
| Diabetes Gestational |
Associate |
27738328 |
| Diabetes Mellitus |
Associate |
20174558, 23147557 |
| Diabetes Mellitus Type 2 |
Associate |
23147557, 26168825, 26292654, 27738328, 33706321 |
| Endometriosis |
Associate |
33436679 |
| Epilepsy |
Associate |
23962720 |
| Gastroschisis |
Associate |
31075877 |
| Glioblastoma |
Inhibit |
19478061 |
| Glioblastoma |
Associate |
25113440, 33470396 |
| Glioma |
Associate |
19478061 |
| Head and Neck Neoplasms |
Associate |
26267899 |
| Hyperphagia |
Associate |
36812308 |
| Hypertension |
Associate |
26425837 |
| Intellectual Disability |
Associate |
31088393 |
| Laryngeal Neoplasms |
Associate |
34299935 |
| Leukemia B Cell |
Associate |
27335277 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
23651669 |
| Lewy Body Disease |
Associate |
28322283 |
| Liver Diseases |
Associate |
28159835 |
| Lung Neoplasms |
Associate |
17420988, 19478061 |
| Lung Neoplasms |
Inhibit |
20073072 |
| Lymphoma |
Associate |
27335277 |
| Lymphoma B Cell Marginal Zone |
Associate |
27335277 |
| Melanoma |
Associate |
25113440, 25393105, 35603359, 35798829 |
| Mental Disorders |
Associate |
39457114 |
| Mood Disorders |
Associate |
29187730 |
| Neoplasm Metastasis |
Associate |
17420988 |
| Neoplasm Metastasis |
Inhibit |
31805999 |
| Neoplasms |
Inhibit |
17420988, 19131950, 19478061, 20073072, 22121227, 22305495, 25412184, 26267899, 28159835, 28345455, 31805999 |
| Neoplasms |
Associate |
18948947, 23289484, 25113440, 25393105, 27501229, 31576098, 32151175, 34299935, 35603359, 35982066, 36248841, 37602864, 40698865 |
| Neuroblastoma |
Associate |
17420988, 22305495, 22367537, 23991058 |
| Neurodegenerative Diseases |
Associate |
22121227 |
| Nocturnal Myoclonus Syndrome |
Associate |
25142570 |
| Obesity |
Associate |
36812308 |
| Obsessive Compulsive Disorder |
Associate |
24821223 |
| Oligodendroglioma |
Associate |
35982066 |
| Pancreatic Cyst |
Associate |
31576098 |
| Pancreatic Neoplasms |
Associate |
26755275, 28099906 |
| Precancerous Conditions |
Associate |
31576098 |
| Restless Legs Syndrome |
Associate |
19546859, 21264940, 21572129, 24293752, 25817513 |
| Sarcoma Ewing |
Associate |
23800680, 25119929 |
| Seizures |
Associate |
23962720 |
| Small Cell Lung Carcinoma |
Associate |
35641209 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
26267899, 27501229, 28345455 |
| Stomach Neoplasms |
Associate |
20331625, 25412184, 28426752 |
| Stomach Neoplasms |
Inhibit |
31805999 |
| Thyroid Cancer Papillary |
Associate |
32151175 |
| Urinary Bladder Neoplasms |
Associate |
33221763 |
| Vascular Diseases |
Associate |
19525478 |
|