| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign; Likely benign |
rs61751237 |
RCV005904528 |
| Adrenocortical carcinoma, hereditary |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs558975598, rs61751237 |
RCV005867151 RCV005904530 |
| Autism spectrum disorder |
Likely benign; Conflicting classifications of pathogenicity |
rs1656790377, rs760186894 |
RCV003127259 RCV003127343 |
| Bladder exstrophy-epispadias-cloacal extrophy complex |
Uncertain significance |
rs145517771 |
RCV003389436 |
| Cervical cancer |
Benign; Likely benign |
rs61751237 |
RCV005904531 |
| Cholangiocarcinoma |
Benign; Likely benign |
rs61751237 |
RCV005904539 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign; Likely benign |
rs61751237 |
RCV005904541 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs61751237 |
RCV005904533 |
| Colon adenocarcinoma |
Conflicting classifications of pathogenicity; Benign |
rs558975598, rs144390145 |
RCV005867150 RCV005908669 |
| Colorectal cancer |
Benign; Likely benign |
rs61751237 |
RCV005904535 |
| Developmental disorder |
Uncertain significance |
rs2102304180 |
RCV003127258 |
| Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype |
Uncertain significance |
rs2527535592 |
RCV003315275 |
| Familial cancer of breast |
Benign; Conflicting classifications of pathogenicity; Likely benign |
rs1892164, rs542983923, rs144390145, rs61751237 |
RCV005920622 RCV005922465 RCV005908668 RCV005904527 |
| Familial pancreatic carcinoma |
Benign; Likely benign |
rs144390145, rs61751237 |
RCV005908673 RCV005904534 |
| Gastric cancer |
Benign; Likely benign |
rs61751237 |
RCV005904537 |
| Hepatocellular carcinoma |
Conflicting classifications of pathogenicity |
rs542983923 |
RCV005922466 |
| Intellectual disability |
Conflicting classifications of pathogenicity |
rs758824583, rs200973415 |
RCV005626454 RCV005626756 |
| Lung cancer |
Benign; Likely benign |
rs61751237 |
RCV005904540 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs144390145, rs61751237 |
RCV005908671 RCV005904529 |
| Malignant tumor of urinary bladder |
Benign |
rs144390145 |
RCV005908670 |
| Melanoma |
Benign; Likely benign |
rs61751237 |
RCV005904538 |
| Ovarian cancer |
Benign; Likely benign |
rs144390145, rs61751237 |
RCV005908672 RCV005904532 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs144390145 |
RCV005908674 |
| Sarcoma |
Benign; Likely benign |
rs61751237 |
RCV005904536 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs144390145 |
RCV005908675 |
| Uterine corpus endometrial carcinoma |
Conflicting classifications of pathogenicity |
rs558975598 |
RCV005867152 |
|
| Disease Name |
Relationship Type |
References |
| Agenesis of Corpus Callosum |
Associate |
34573379 |
| Autism Spectrum Disorder |
Associate |
28344757, 28720891, 34573379 |
| Autistic Disorder |
Associate |
39202393 |
| Body Dysmorphic Disorders |
Associate |
34573379, 35278764 |
| Bovine Respiratory Disease Complex |
Associate |
37788244 |
| Breast Neoplasms |
Associate |
10336460, 17363312, 21821892, 21969366, 22371483, 22420752, 24937458, 26125737, 26207617, 26917489, 28138513, 29282222, 30472020, 31060229, 31776402, 31805991, 33592583, 36697763 View all (3 more) |
| Breast Neoplasms |
Inhibit |
24412361 |
| Breast Neoplasms |
Stimulate |
30588710, 37254514 |
| Camptodactyly 1 |
Associate |
29276005 |
| Carcinogenesis |
Associate |
20226085, 22371483, 24412361, 30092824, 36697763 |
| Carcinoma Ductal Breast |
Associate |
26125737 |
| Carcinoma Hepatocellular |
Associate |
28566884, 30353907, 31737652, 33355042, 37137887 |
| Carcinoma Non Small Cell Lung |
Associate |
30092824 |
| Carcinoma Ovarian Epithelial |
Stimulate |
25663457 |
| Carcinoma Renal Cell |
Associate |
27279483 |
| Clear cell metastatic renal cell carcinoma |
Associate |
27279483 |
| Colorectal Neoplasms |
Associate |
27635108 |
| Developmental Disabilities |
Associate |
29276005, 34573379, 35278764, 39202393 |
| Diastrophic dysplasia |
Associate |
34573379, 39202393 |
| Dislocation of Hip Congenital with Hyperextensibility of Fingers and Facial Dysmorphism |
Associate |
35278764 |
| Ectodermal Dysplasia |
Associate |
34573379 |
| Ectodermal Dysplasia |
Stimulate |
37887281 |
| Epilepsies Myoclonic |
Associate |
35278764 |
| Epileptic Syndromes |
Associate |
35278764 |
| Esophageal Squamous Cell Carcinoma |
Associate |
35333349 |
| Facial Dysmorphism with Multiple Malformations |
Associate |
29276005, 34573379 |
| Glioma |
Associate |
37254514 |
| Head and Neck Neoplasms |
Associate |
30080846 |
| Heart Defects Congenital |
Associate |
32341405, 34324492 |
| Inflammation |
Associate |
24412361 |
| Intellectual Disability |
Associate |
34573379, 35278764, 39202393 |
| Learning Disabilities |
Associate |
32341405 |
| Leukemia |
Associate |
26655717, 32007477 |
| Leukemia Biphenotypic Acute |
Associate |
26655717 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
32007477 |
| Lung Neoplasms |
Associate |
20226085, 21546573 |
| Lymphatic Metastasis |
Associate |
26125737 |
| Lymphatic Metastasis |
Stimulate |
30092824 |
| Lymphoma Mantle Cell |
Associate |
25755704 |
| Melanoma |
Inhibit |
15803180 |
| Melanoma |
Associate |
16645588, 23764003, 26967479, 28143781, 29246117, 31229500, 35650266, 37308689 |
| Mental Disorders |
Associate |
39202393 |
| Mental Retardation Autosomal Recessive 4 |
Associate |
39202393 |
| Multiple Myeloma |
Stimulate |
28262558 |
| Multiple Myeloma |
Associate |
31548641 |
| Neoplasm Metastasis |
Inhibit |
15803180 |
| Neoplasms |
Inhibit |
16645588, 17363312, 24412361, 24952722, 26461474 |
| Neoplasms |
Associate |
20226085, 20973793, 21969366, 22615382, 23764003, 24952722, 25663457, 25951238, 26125737, 27584795, 27635108, 29282222, 30080846, 30092824, 30588710, 31805991, 32726325, 35440714, 36697763, 37105962, 37254514 View all (6 more) |
| Neoplasms |
Stimulate |
30353907 |
| Neoplasms Squamous Cell |
Inhibit |
27584795 |
| Neuroblastoma |
Associate |
25951238 |
| Nevus Pigmented |
Inhibit |
15803180 |
| Pancreatic Neoplasms |
Associate |
39239542 |
| Peripheral Nervous System Diseases |
Associate |
31548641 |
| Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate |
29565495 |
| Prostatic Neoplasms |
Stimulate |
18048344 |
| Prostatic Neoplasms |
Associate |
36404720 |
| Retinoblastoma |
Associate |
22615382 |
| Seizures |
Associate |
35278764 |
| Simpson Golabi Behmel syndrome |
Associate |
39202393 |
| Skin Abnormalities |
Associate |
39202393 |
| Sleep Wake Disorders |
Associate |
39202393 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
27584795 |
| Stomach Neoplasms |
Associate |
27874950, 30412518 |
| Testicular Neoplasms |
Stimulate |
21546573 |
| Triple Negative Breast Neoplasms |
Inhibit |
24412361 |
| Triple Negative Breast Neoplasms |
Associate |
26917489, 31776402 |
| Urinary Bladder Neoplasms |
Stimulate |
20226085 |
| Urinary Bladder Neoplasms |
Associate |
23579952, 37105962 |
| Uveal melanoma |
Associate |
36212716 |
|