| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| - |
no classification for the single variant |
rs267606540, rs267606585, rs267606583 |
- |
| Acroleukopathy, symmetric |
Conflicting classifications of pathogenicity |
rs139459091, rs61741147 |
RCV000765005 RCV000765006 |
| AIP-related disorder |
Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign |
rs747157774, rs770634613, rs755320118, rs539027647, rs769858610, rs104894190, rs267606562, rs116940576, rs147931650, rs35665586, rs1865805178, rs142912418, rs79662690, rs138902236, rs760690172, rs1063385, rs145047094, rs139407567, rs148986773, rs267606586, rs866556486, rs781545373, rs754619109, rs954223621, rs267606572 View all (10 more) |
RCV004749668 RCV003965928 RCV003930957 RCV003931134 RCV004749811 RCV004748499 RCV003959664 RCV003920260 RCV003967877 RCV003977888 RCV003966866 RCV003950030 RCV003957581 RCV003409472 RCV004748827 RCV003894847 RCV003924890 RCV003952391 RCV003904890 RCV004748542 RCV003396613 RCV003962996 RCV004749585 RCV003405241 RCV003963205 |
| Clear cell carcinoma of kidney |
Conflicting classifications of pathogenicity |
rs145047094 |
RCV005888914 |
| Dopamine agonists response |
Conflicting classifications of pathogenicity |
rs104894190 |
RCV000735427 |
| Familial cancer of breast |
Conflicting classifications of pathogenicity |
rs145047094 |
RCV005888912 |
| Gastric cancer |
Conflicting classifications of pathogenicity |
rs145047094 |
RCV005888916 |
| Malignant tumor of esophagus |
Conflicting classifications of pathogenicity |
rs145047094 |
RCV005888913 |
| Ovarian serous cystadenocarcinoma |
Uncertain significance; Conflicting classifications of pathogenicity; Likely benign |
rs1865803496, rs145047094, rs781545373 |
RCV005927015 RCV005888917 RCV005912394 |
| Pituitary adenoma 5, multiple types |
Conflicting classifications of pathogenicity |
rs539027647, rs202156895 |
RCV003233035 RCV003233033 |
| Pituitary dependent hypercortisolism |
Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs780707460, rs104894190, rs139459091, rs368933035, rs61741147, rs775549178 |
RCV002476763 RCV000005171 RCV000765005 RCV002476243 RCV000765006 RCV002505546 |
| Sarcoma |
Conflicting classifications of pathogenicity |
rs145047094 |
RCV005888915 |
|
| Disease Name |
Relationship Type |
References |
| Abdominal Pain |
Associate |
31125088 |
| Acromegaly |
Associate |
17360484, 17893251, 23300914, 25019383, 25075136, 27253664, 27650164, 28634279, 36757586, 36843582, 40500813 |
| ACTH Secreting Pituitary Adenoma |
Associate |
19556287 |
| Adenocarcinoma Follicular |
Associate |
32333269 |
| Adenoma |
Associate |
17244780, 17360484, 21450940, 29729370, 36843582, 37149543 |
| Adenomatous Polyposis Coli |
Associate |
21450940 |
| Adrenal Gland Neoplasms |
Associate |
19522821 |
| Adrenocortical Carcinoma |
Associate |
20454499 |
| Atherosclerosis |
Associate |
34580389, 37372394 |
| Autoimmune Pancreatitis |
Associate |
19940298 |
| Carcinogenesis |
Associate |
17244780, 17360484, 20454499, 21450940, 25291362, 27253664, 29947650, 37149543 |
| Central Nervous System Infections |
Associate |
37678673 |
| Cholangiocarcinoma |
Associate |
35672673 |
| Colorectal Neoplasms |
Associate |
17242703, 36064587 |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate |
17360484 |
| Diabetes Mellitus |
Associate |
34580389 |
| Dwarfism Pituitary |
Associate |
36757586 |
| Gigantism |
Associate |
23300914, 25075136, 26187128, 27245663, 27253664, 27650164, 28634279, 34972788 |
| Growth hormone excess |
Associate |
33010004 |
| Growth Hormone Secreting Pituitary Adenoma |
Associate |
17244780, 19556287, 20354355, 20454499, 25291362, 25938168, 27498687, 27838609, 29729370, 29953972, 31125088, 31365626, 37149543 |
| Headache |
Associate |
31125088 |
| Hyperplasia |
Associate |
21450940 |
| Ichthyosis prematurity syndrome |
Associate |
17893251 |
| Intestinal Atresia Multiple |
Associate |
40624119 |
| Lipoma |
Associate |
21078971 |
| Lymphoma Large B Cell Diffuse |
Associate |
36064587 |
| Multiple Endocrine Neoplasia Type 1 |
Associate |
21078971, 29036195 |
| Neoplasm Invasiveness |
Associate |
27498687 |
| Neoplasms |
Associate |
17244780, 20454499, 21340166, 21450940, 22240890, 27498687, 29440248, 31125088, 31745186, 31858400, 32648210, 34299200, 36843582 |
| Neoplasms |
Inhibit |
25291362, 36064587 |
| Neoplastic Syndromes Hereditary |
Associate |
25075136, 25291362 |
| Neuroendocrine Tumors |
Associate |
31996917, 36757586, 40129208 |
| Obesity |
Associate |
34487087 |
| Pancreatic Neoplasms |
Associate |
19940298 |
| Personality Disorders |
Associate |
19556287 |
| Pituitary ACTH Hypersecretion |
Associate |
20507346, 36843582 |
| Pituitary Adenoma Familial Isolated |
Associate |
17244780, 17893251, 19556287, 19684062, 21450940, 22291433, 25938168, 26186299, 27838609, 29729370, 31996917, 32333269, 37149543 |
| Pituitary Apoplexy |
Associate |
31125088 |
| Pituitary Diseases |
Associate |
21753072, 23321498, 31996917, 37149543, 40500813 |
| Pituitary Neoplasms |
Associate |
17242703, 17244780, 17360484, 17893251, 19556287, 19684062, 20354355, 20454499, 20507346, 20685857, 21078971, 21340166, 21450940, 21512261, 21753072, 23300914, 25494863, 25938168, 26186299, 27253664, 27838609, 28255869, 28634279, 29440248, 31125088, 31365626, 31996917, 32333269, 33010004, 36161330, 36843582, 37149543, 39202532 View all (18 more) |
| Progressive hearing loss stapes fixation |
Associate |
26187128, 27245663 |
| Prolactinoma |
Associate |
17244780, 17893251, 21340166, 27838609, 33010004, 37711900 |
| Stomach Neoplasms |
Associate |
32648210 |
| Thyroid Neoplasms |
Associate |
32333269 |
| Vision Disorders |
Associate |
31125088 |
|