| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cervical cancer |
Pathogenic |
rs774795340 |
RCV005900928 |
| Hepatocellular carcinoma |
Pathogenic |
rs765249238 |
RCV005893890 |
| Hypertrophic osteoarthropathy, primary, autosomal dominant |
Pathogenic; Likely pathogenic |
rs2108043577, rs765824772, rs1177054873, rs776813259, rs774795340, rs387907297 |
RCV001527660 RCV001527662 RCV001527665 RCV001527663 RCV001527659 RCV001527661 |
| Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 |
Pathogenic; Likely pathogenic |
rs2108043577, rs778081416, rs1177054873, rs2108035368, rs765698717, rs2108045784, rs2108045848, rs200316980, rs387907297, rs1576444504, rs768030732, rs758054913, rs776813259, rs1085307096, rs765249238, rs2472565080, rs2472464628, rs148547180, rs1576428882, rs1406040264, rs2472460701, rs745477350, rs1300597092, rs1933329681, rs2472460697, rs2472460455, rs2530970295, rs892909504, rs1559943990, rs387906806, rs1559927542, rs774795340, rs751192029, rs370769816, rs387907295, rs387907296, rs1576467025, rs1376989560, rs1933458497, rs774038272 View all (25 more) |
RCV003642961 RCV001527664 RCV001527666 RCV001527667 RCV001533517 RCV001533515 RCV001533516 RCV003642983 RCV003642981 RCV002052072 RCV006257371 RCV003776900 RCV000490280 RCV000490458 RCV000490351 RCV003389097 RCV003447855 RCV003643500 RCV003643501 RCV003643502 RCV003643503 RCV003643504 RCV003643505 RCV003643507 RCV003643508 RCV003643509 RCV003643510 RCV003643511 RCV000023104 RCV000023105 RCV000023106 RCV000505666 RCV000030778 RCV003642868 RCV000030780 RCV000030781 RCV000030782 RCV001029822 RCV001029816 RCV001198034 RCV001255883 RCV001255885 RCV001255886 |
| Pachydermoperiostosis syndrome |
Pathogenic |
rs2472498909 |
RCV003994633 |
|
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Adrenocortical carcinoma, hereditary |
Benign |
rs10935090 |
RCV005921192 |
| Clear cell carcinoma of kidney |
Uncertain significance |
rs140206661 |
RCV005926580 |
| Colorectal cancer |
Benign |
rs10935090 |
RCV005921195 |
| Familial pancreatic carcinoma |
Benign |
rs10935090 |
RCV005921193 |
| Gastric cancer |
Benign |
rs149443780 |
RCV005912095 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs10935090 |
RCV005921194 |
| Malignant tumor of esophagus |
Benign |
rs149443780 |
RCV005912094 |
| SLCO2A1-related disorder |
Likely benign; Benign; Conflicting classifications of pathogenicity |
rs556416557, rs79619371, rs556819076, rs561841509, rs377718592, rs746875740, rs146970901, rs146195307, rs201797879, rs145832999, rs141676845, rs142920472, rs530021473 |
RCV004731218 RCV003903349 RCV003973788 RCV003911936 RCV003961429 RCV003954371 RCV003903257 RCV003955851 RCV003910626 RCV003932931 RCV003923100 RCV003923197 RCV003960553 |
| Thymoma |
Conflicting classifications of pathogenicity |
rs149946676 |
RCV005917445 |
| Thyroid cancer, nonmedullary, 1 |
Likely benign |
rs527244554 |
RCV005903068 |
|
| Disease Name |
Relationship Type |
References |
| 3C syndrome |
Stimulate |
21383546 |
| Adenoma |
Associate |
24099521 |
| Alzheimer Disease |
Associate |
18353443 |
| Anemia |
Associate |
29313109, 33328413, 33852188, 35611666 |
| Aortic Dissection |
Associate |
36818541 |
| Arthralgia |
Associate |
33852188, 37226222 |
| Atresia of small intestine |
Associate |
26539716, 30400730, 37077520 |
| Autoimmune enteropathy |
Associate |
30065566 |
| Behcet Syndrome |
Associate |
32092751 |
| Breast Neoplasms |
Associate |
35617355 |
| Carcinoma Hepatocellular |
Associate |
21383546, 33988674 |
| Chronic Disease |
Associate |
26539716, 29313109, 30400730, 31011259, 31611528, 32092751, 32943023, 33166338, 33328413, 35185052, 35611666, 36480694, 36907595, 37077520 |
| Clubfoot |
Associate |
24838973 |
| Colitis Ulcerative |
Associate |
30065566, 32943023, 36480694 |
| Colonic Diseases |
Associate |
24838973 |
| Colonic Neoplasms |
Associate |
21383546 |
| Colorectal Neoplasms |
Associate |
24694755, 24838973, 35416128 |
| Congenital Hereditary and Neonatal Diseases and Abnormalities |
Associate |
36480694 |
| Constriction Pathologic |
Associate |
36480694, 36907595 |
| Crohn Disease |
Associate |
26539716, 29313109, 36480694 |
| Drug Related Side Effects and Adverse Reactions |
Associate |
32278009 |
| Ductus Arteriosus Patent |
Associate |
26265282 |
| Eosinophilic enteropathy |
Associate |
37077520 |
| Fanconi Syndrome |
Associate |
32278009 |
| Fibrosis |
Associate |
40160813 |
| Gastroesophageal Reflux |
Associate |
32784296 |
| Gastrointestinal Hemorrhage |
Stimulate |
28425581 |
| Gastrointestinal Hemorrhage |
Associate |
32943023 |
| Hyponatremia |
Associate |
28783044 |
| Hypoproteinemia |
Associate |
35185052 |
| Idiopathic Pulmonary Fibrosis |
Associate |
12100034 |
| Ileal Diseases |
Associate |
33328413 |
| Inflammation |
Associate |
40160813 |
| Intestinal Diseases |
Associate |
30065566, 32092751, 35611666 |
| Intestinal Polyposis |
Associate |
32092751 |
| Joint Diseases |
Associate |
28425581 |
| Lung Neoplasms |
Associate |
26464663 |
| Nail dysplasia isolated congenital |
Associate |
36833358 |
| Neoplasms |
Associate |
21383546, 24838973, 26464663, 32103057, 33081378 |
| Neoplasms |
Inhibit |
33619025 |
| Neoplastic Syndromes Hereditary |
Associate |
26539716, 31011259 |
| Optic Nerve Diseases |
Associate |
40160813 |
| Osteoarthropathy Primary Hypertrophic |
Associate |
22197487, 24838973, 27134495, 28425581, 28851954, 29313109, 31611528, 33328413, 33852188, 34027406, 35611666, 35813463, 37226222, 39607761 |
| Osteoarthropathy Secondary Hypertrophic |
Associate |
28425581 |
| Pancreatic Neoplasms |
Stimulate |
23307416 |
| Pre Eclampsia |
Associate |
36982197 |
| Prostate Cancer Hereditary 7 |
Associate |
33619025 |
| Prostatic Neoplasms |
Associate |
33619025 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
23137910 |
| Stomach Neoplasms |
Associate |
30702489, 33081378, 33440718, 36044785 |
| Thyroid cancer follicular |
Associate |
24099521 |
| Tooth Loss |
Associate |
26539716 |
| Ulcer |
Associate |
31611528, 32943023, 33166338 |
|