| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| CDC73-related disorder |
Pathogenic |
rs760591174 |
RCV004529412 |
| Cystic parathyroid adenoma |
Pathogenic |
rs587776557 |
RCV000003432 |
| Familial cancer of breast |
Pathogenic |
rs1558280170 |
RCV001310104 |
| Hereditary cancer-predisposing syndrome |
Pathogenic; Likely pathogenic |
rs2103121721, rs2103130589, rs1677688362, rs2103123828, rs2103178097, rs2102058252, rs2527493922, rs2527317468, rs2527341649, rs2527289344, rs121434262, rs587776558, rs2527500780, rs587776559, rs2103117916, rs760591174, rs2527455776, rs886041158, rs1678016165, rs1553288362, rs2527324739, rs2527440253, rs2102038475, rs2527440254, rs2527500853, rs1060500009, rs1553278844, rs1572150469, rs770439843, rs794727303, rs1558280170, rs1675915231 View all (17 more) |
RCV002329408 RCV002421192 RCV004946930 RCV002334977 RCV003164059 RCV002332111 RCV002364426 RCV002328620 RCV002449930 RCV002405646 RCV002426483 RCV002381237 RCV002383692 RCV002457907 RCV002435353 RCV002365215 RCV003171454 RCV004021055 RCV003288383 RCV003288386 RCV003338970 RCV003338972 RCV003341621 RCV004364913 RCV004517607 RCV005532653 RCV002350233 RCV002458429 RCV002363129 RCV001015315 RCV005306243 RCV004601428 |
| Hyperparathyroidism 1 |
Pathogenic; Likely pathogenic |
rs2103121721, rs2103130589, rs2103126261, rs80356649, rs121434264, rs587776558, rs760591174, rs2527324739, rs2527324275, rs1057519419, rs770439843, rs1558280170 |
RCV005005923 RCV003463051 RCV003464317 RCV000664206 RCV000003431 RCV000003435 RCV002500813 RCV004572940 RCV004575501 RCV000417061 RCV002507424 RCV001198546 |
| Hyperparathyroidism 2 with jaw tumors |
Pathogenic; Likely pathogenic |
rs2103121721, rs760591174, rs2103130589, rs1677688362, rs2527324463, rs28942098, rs121434262, rs80356649, rs587776558, rs587776559, rs886041158, rs2103111785, rs80356650, rs770439843, rs1558280170 |
RCV005005923 RCV002290707 RCV005005963 RCV002290811 RCV002282967 RCV000003424 RCV000003425 RCV000003427 RCV002496245 RCV000003440 RCV002500813 RCV005645062 RCV003494052 RCV002260511 RCV002507424 RCV005012486 |
| Multiple endocrine neoplasia, type 1 |
Likely pathogenic |
rs2527281270 |
RCV003233053 |
| Ossifying fibroma of the jaw |
Pathogenic |
rs1057519385, rs1057519384 |
RCV000417076 RCV000417074 |
| Parathyroid adenoma, somatic |
Likely pathogenic; Pathogenic |
rs587776558 |
RCV000003436 |
| Parathyroid carcinoma |
Likely pathogenic; Pathogenic |
rs2102038469, rs2103111548, rs2103121496, rs2103121721, rs760591174, rs2103132220, rs2103130589, rs1677688362, rs2103126265, rs2103132218, rs2103132250, rs2103117753, rs771907995, rs2103114004, rs2103123824, rs2103121472, rs587776558, rs2103121703, rs2103123807, rs2103126261, rs2103123828, rs2102061886, rs2102061912, rs2103178097, rs2102058495, rs121434262, rs80356649, rs121434263, rs121434264, rs121434265, rs1572150584, rs587776560, rs587776561, rs2527455766, rs2527281416, rs2527324301, rs2103114052, rs2527281026, rs1057519419, rs2102061867, rs2527324879, rs2527493724, rs886041158, rs886041278, rs2103111608, rs2527440254, rs2527280897, rs2103117989, rs2527311881, rs2527281261, rs2527280954, rs2527280793, rs779923532, rs2527281408, rs2527280678, rs2527493958, rs80356650, rs1060500009, rs1060500015, rs1060500020, rs1060500019, rs1060500012, rs794727303, rs1131691698, rs1131691732, rs1553279088, rs1553288362, rs1553278844, rs1553279085, rs1558276082, rs1558276054, rs1558276157, rs1572152420, rs1572150469, rs770439843, rs1572154885, rs1572215344, rs1572142597, rs1558280170, rs1677132309, rs1675462891, rs1677757559, rs1675465013, rs1675541893, rs1675915231 View all (70 more) |
RCV001379928 RCV001381971 RCV001384828 RCV001388080 RCV001390792 RCV001388623 RCV001882642 RCV002014473 RCV001876593 RCV001941739 RCV001930559 RCV001964199 RCV001908472 RCV001994678 RCV001939630 RCV001951166 RCV001962988 RCV001972723 RCV001949344 RCV001949345 RCV001959200 RCV001951305 RCV001935303 RCV001887696 RCV002005159 RCV002512708 RCV000003428 RCV000003430 RCV001851616 RCV000003433 RCV000003434 RCV001054064 RCV000003439 RCV000003441 RCV000003442 RCV002609052 RCV002833154 RCV002846307 RCV002857235 RCV002884968 RCV002863427 RCV003027188 RCV003024998 RCV003054898 RCV000226610 RCV001203213 RCV001381894 RCV003501117 RCV003500872 RCV003501680 RCV003501681 RCV003501682 RCV003501976 RCV003500182 RCV003500230 RCV003500471 RCV003607826 RCV003607937 RCV003607948 RCV000020885 RCV000458654 RCV000472304 RCV000463923 RCV000477581 RCV000473101 RCV000465715 RCV001060944 RCV001379679 RCV000526998 RCV000558035 RCV000550505 RCV000638120 RCV000702833 RCV000706820 RCV000687778 RCV000781204 RCV000795507 RCV000815729 RCV000817698 RCV000815039 RCV000986475 RCV003607377 RCV001049577 RCV001047698 RCV001209295 RCV001207874 RCV001241910 RCV001245622 RCV001880200 |
| Parathyroid gland adenoma |
Pathogenic |
rs760591174 |
RCV000003438 |
|
| Disease Name |
Relationship Type |
References |
| Acrospiroma |
Associate |
37339334 |
| Adenoma |
Associate |
16995822, 23029479, 24340015, 24823466 |
| Adenoma |
Inhibit |
18080135, 26658808 |
| Adenoma Oxyphilic |
Stimulate |
23361235 |
| Albuminuria |
Associate |
30547231 |
| Aortic Aneurysm Thoracic |
Associate |
24823466 |
| Bone Diseases |
Associate |
37807045 |
| Breast Neoplasms |
Associate |
26832176, 35551175 |
| Carcinogenesis |
Associate |
12960210, 17923126, 23361235, 23435613, 32780442, 36611251, 37121965 |
| Carcinoma |
Associate |
30452964, 36153594 |
| Carcinoma Ovarian Epithelial |
Associate |
26409451 |
| Carcinoma Renal Cell |
Associate |
23361235, 25970683 |
| Cerebrooculofacioskeletal Syndrome 1 |
Associate |
37995913 |
| Colonic Neoplasms |
Associate |
23991985 |
| Colorectal Neoplasms |
Associate |
23991985 |
| Endocrine Gland Neoplasms |
Associate |
7717405 |
| Fibroma Ossifying |
Associate |
24842573, 29040582, 35220546, 36928741 |
| Fibrous Dysplasia of Bone |
Associate |
23453027, 35220546 |
| Gastritis |
Inhibit |
18080135 |
| Genetic Diseases Inborn |
Associate |
29142233 |
| Glutaric Acidemia I |
Stimulate |
30373905 |
| Head and Neck Neoplasms |
Inhibit |
26409451 |
| Hemorrhage |
Associate |
30452964 |
| Hyperlipidemias |
Associate |
22369086 |
| Hyperparathyroidism |
Associate |
14585940, 16995822, 17065424, 28394026 |
| Hyperparathyroidism 1 |
Associate |
12960210, 14985373, 16061557, 16995822, 18987311, 22187299, 24121387, 24823466, 29036195 |
| Hyperparathyroidism 2 |
Associate |
12960210, 14585940, 15606373, 16061557, 18987311, 19906718, 21360064, 24121387, 24340015, 24823466, 24842573, 25444225, 25959515, 29040582, 29142233, 29217931, 29225260, 29324469, 29739732, 30452964, 36153594, 37339334, 7717405, 9973288 View all (9 more) |
| Hyperparathyroidism 2 |
Inhibit |
23361235 |
| Hyperparathyroidism Primary |
Associate |
16995822, 17065424, 19092296, 24121387, 24340015, 24823466, 25959515, 28394026, 29040582, 29408534, 32590342, 36777354, 37339334, 37465121, 39620181 |
| Hyperplasia |
Associate |
19107770 |
| Jaw Neoplasms |
Associate |
36153594 |
| Kidney Diseases |
Associate |
37807045 |
| Kidney Neoplasms |
Associate |
25970683, 37339334 |
| Lymphatic Metastasis |
Associate |
26124004 |
| Mandibular Neoplasms |
Associate |
24842573 |
| Menorrhagia |
Associate |
15606373 |
| Multiple Endocrine Neoplasia Type 1 |
Associate |
24121387, 29036195 |
| Myocardial Infarction |
Associate |
22369086 |
| Neoplasm Metastasis |
Associate |
18080135, 21240254, 26409451, 29324469 |
| Neoplasms |
Associate |
12960210, 14585940, 21360064, 23029479, 23361235, 23453027, 25959515, 26124004, 26409451, 28352668, 29324469, 30452964, 30923346, 32780442, 34424918, 34706517, 35551175, 37121965 View all (3 more) |
| Neoplasms |
Inhibit |
15606373, 16995822, 17065424, 17923126, 19136632, 20614331, 22454399, 23029104, 23435613, 24257751, 24340015, 24842573, 25959515, 29142233, 30799315 |
| Nephrocalcinosis |
Associate |
37807045 |
| Nephrolithiasis |
Associate |
37807045 |
| Osteitis Fibrosa Cystica |
Associate |
39620181 |
| Osteosarcoma |
Associate |
23453027 |
| Ovarian Neoplasms |
Inhibit |
26409451 |
| Ovarian Neoplasms |
Associate |
30485824 |
| Parathyroid Neoplasms |
Associate |
12960210, 14585940, 16995822, 18080135, 18987311, 19092296, 19906718, 20614331, 21240254, 21360064, 21521290, 22454399, 23029104, 23029479, 24121387, 24340015, 24823466, 28352668, 29040582, 29324469, 29408534, 29739732, 30373905, 30567092, 30799315, 30923346, 32590342, 32761341, 32780442, 36284286, 36611251, 36777354, 37121965, 37339334, 38237426, 39620181 View all (21 more) |
| Parathyroid Neoplasms |
Inhibit |
19107770, 19136632, 23435613, 26658808, 30799315 |
| Polyps |
Associate |
37339334 |
| Squamous Cell Carcinoma of Head and Neck |
Inhibit |
24257751 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
26124004 |
| Stomach Neoplasms |
Inhibit |
18080135, 23991985, 26124004 |
| Syndrome |
Associate |
17065424 |
| Triple Negative Breast Neoplasms |
Associate |
35551175 |
| Uterine Neoplasms |
Associate |
15606373 |
| Wilms Tumor |
Associate |
40340749 |
|