| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs12519766 |
RCV005905792 |
| Cervical cancer |
Benign |
rs114437064 |
RCV005898815 |
| Cholangiocarcinoma |
Benign |
rs55951418 |
RCV005903918 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign |
rs73104058, rs55951418, rs12519766 |
RCV005896465 RCV005903919 RCV005905799 |
| Familial cancer of breast |
Benign |
rs73104058 |
RCV005896457 |
| Familial pancreatic carcinoma |
Benign |
rs73104058, rs55951418, rs12519766 |
RCV005896461 RCV005903913 RCV005905795 |
| Gastric cancer |
Benign |
rs55951418, rs12519766 |
RCV005903915 RCV005905797 |
| Hepatocellular carcinoma |
Benign |
rs73104058, rs55951418 |
RCV005896458 RCV005903910 |
| KIF2A-related disorder |
Likely benign; Benign |
rs112470989, rs750092067, rs754709514, rs1330714767, rs1745280504, rs73102041, rs748463159, rs61748225, rs138408434, rs201710140, rs183057543, rs200042213 |
RCV003951174 RCV003903414 RCV003926434 RCV003956630 RCV003971704 RCV003932609 RCV003942378 RCV003962747 RCV003945572 RCV003935948 RCV003968132 RCV003968172 |
| Lung cancer |
Benign |
rs114437064 |
RCV005898817 |
| Lymphoma |
Benign |
rs73104058, rs55951418, rs12519766 |
RCV005896463 RCV005903916 RCV005905798 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs73104058, rs55951418, rs12519766 |
RCV005896462 RCV005903914 RCV005905796 |
| Microcephaly |
Likely benign |
rs552269440 |
RCV001252808 |
| Nonpapillary renal cell carcinoma |
Benign |
rs73104058, rs55951418, rs12519766 |
RCV005896459 RCV005903911 RCV005905793 |
| Ovarian cancer |
Benign |
rs73104058, rs55951418, rs12519766 |
RCV005896460 RCV005903912 RCV005905794 |
| Thymoma |
Benign |
rs114437064, rs55951418 |
RCV005898816 RCV005903917 |
| Thyroid cancer, nonmedullary, 1 |
Conflicting classifications of pathogenicity |
rs368021683 |
RCV005924202 |
| Uterine carcinosarcoma |
Benign |
rs73104058 |
RCV005896464 |
| Uterine corpus endometrial carcinoma |
Benign |
rs114437064 |
RCV005898818 |