| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs145544909, rs200942360 |
RCV005899226 RCV005913982 |
| Adrenocortical carcinoma, hereditary |
Benign; Likely benign |
rs78599516 |
RCV005899241 |
| Amelogenesis imperfecta |
Uncertain significance |
rs148469975 |
RCV001089669 |
| Cervical cancer |
Benign |
rs145544909, rs74874687, rs200942360 |
RCV005899228 RCV005899233 RCV005913986 |
| Cholangiocarcinoma |
Benign; Likely benign |
rs145544909, rs74874687, rs78599516, rs200942360 |
RCV005899231 RCV005899238 RCV005899248 RCV005913991 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign; Likely benign |
rs78599516 |
RCV005899249 |
| Clear cell carcinoma of kidney |
Conflicting classifications of pathogenicity |
rs139106189 |
RCV005869458 |
| Colorectal cancer |
Benign; Likely benign |
rs78599516 |
RCV005899245 |
| Familial cancer of breast |
Benign; Conflicting classifications of pathogenicity |
rs145544909, rs74874687, rs139106189, rs200942360 |
RCV005899225 RCV005899232 RCV005869453 RCV005913981 |
| Familial pancreatic carcinoma |
Benign; Likely benign |
rs78599516 |
RCV005899244 |
| Gastric cancer |
Conflicting classifications of pathogenicity |
rs139106189 |
RCV005869459 |
| Glioma susceptibility 1 |
Conflicting classifications of pathogenicity |
rs139106189 |
RCV005869454 |
| Hepatocellular carcinoma |
Benign |
rs200942360 |
RCV005913984 |
| Lymphoma |
Benign; Likely benign |
rs78599516 |
RCV005899246 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs200942360 |
RCV005913987 |
| Malignant tumor of esophagus |
Benign; Conflicting classifications of pathogenicity |
rs145544909, rs139106189, rs200942360 |
RCV005899227 RCV005869457 RCV005913985 |
| Malignant tumor of urinary bladder |
Conflicting classifications of pathogenicity; Benign |
rs139106189, rs200942360 |
RCV005869456 RCV005913983 |
| Melanoma |
Benign; Conflicting classifications of pathogenicity |
rs74874687, rs139106189 |
RCV005899237 RCV005869460 |
| Neurometabolic disorder due to serine deficiency |
Conflicting classifications of pathogenicity |
rs139106189 |
RCV005355791 |
| Nonpapillary renal cell carcinoma |
Benign; Likely benign |
rs78599516 |
RCV005899240 |
| Ovarian cancer |
Benign; Likely benign |
rs78599516 |
RCV005899242 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs145544909, rs74874687, rs200942360 |
RCV005899230 RCV005899235 RCV005913989 |
| Papillary renal cell carcinoma type 1 |
Conflicting classifications of pathogenicity |
rs139106189 |
RCV005869455 |
| PSPH-related disorder |
Benign; Conflicting classifications of pathogenicity; Likely benign |
rs202027697, rs147304638, rs767359030 |
RCV003972518 RCV003912543 RCV003933856 |
| Sarcoma |
Benign |
rs145544909, rs74874687, rs200942360 |
RCV005899229 RCV005899234 RCV005913988 |
| Thymoma |
Benign |
rs200942360 |
RCV005913990 |
| Uterine carcinosarcoma |
Benign; Likely benign |
rs74874687, rs78599516 |
RCV005899236 RCV005899247 |
| Uterine corpus endometrial carcinoma |
Benign |
rs74874687, rs200942360 |
RCV005899239 RCV005913992 |
| Uveal melanoma |
Benign; Likely benign |
rs78599516 |
RCV005899243 |