| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Conflicting classifications of pathogenicity; Benign; Likely benign |
rs112823079, rs34588160, rs12187098 |
RCV005920876 RCV005898901 RCV005898881 |
| BDP1-related disorder |
Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance |
rs555865529, rs187541686, rs75859503, rs377548231, rs191127702, rs200843292, rs201849167, rs200098601, rs73775118, rs199840190, rs535538241, rs200080464, rs191238264, rs200647339, rs201172860, rs756262265, rs779484262, rs758895091, rs370260690, rs1764470414, rs140158048, rs201913129, rs200662172, rs187778306, rs200304584, rs34727932, rs17276250, rs746227158 View all (13 more) |
RCV004758189 RCV003910932 RCV003921283 RCV003968421 RCV003941078 RCV003948715 RCV004758193 RCV004758194 RCV003956368 RCV004758195 RCV003913370 RCV003956364 RCV003911004 RCV003919055 RCV004758276 RCV003921651 RCV003967306 RCV003911847 RCV003924226 RCV003942279 RCV003981806 RCV003962257 RCV003962799 RCV003905621 RCV003938202 RCV003918313 RCV003975359 RCV003936249 |
| Cervical cancer |
Benign |
rs12187098 |
RCV005898885 |
| Cholangiocarcinoma |
Benign |
rs12187098 |
RCV005898892 |
| Clear cell carcinoma of kidney |
Benign; Likely benign |
rs34588160 |
RCV005898902 |
| Gastric cancer |
Benign |
rs12187098 |
RCV005898888 |
| Hearing impairment |
Uncertain significance |
rs772970426 |
RCV001375250 |
| Hearing loss, autosomal recessive 112 |
Uncertain significance; Benign; Likely benign; not provided; Conflicting classifications of pathogenicity |
rs200898204, rs276590, rs66954493, rs777466033, rs2112148040, rs1765645980, rs549534181, rs1765151743, rs715748, rs1961760, rs182190, rs715747, rs469039, rs3748043, rs3761967, rs6886336, rs1698063, rs6453014, rs199721728, rs418738 View all (5 more) |
RCV001329073 RCV001554062 RCV002502013 RCV002266814 RCV002266815 RCV002310617 RCV003143778 RCV003988622 RCV001554056 RCV001554057 RCV001554218 RCV001554058 RCV001554219 RCV001554054 RCV001554055 RCV001554059 RCV001554061 RCV001554217 RCV000735423 RCV001554060 |
| Hepatocellular carcinoma |
Benign |
rs12187098 |
RCV005898882 |
| Malignant tumor of esophagus |
Benign |
rs76985196, rs12187098 |
RCV005914740 RCV005898883 |
| Melanoma |
Benign |
rs12187098 |
RCV005898891 |
| Nonpapillary renal cell carcinoma |
Benign |
rs12187098 |
RCV005898884 |
| Ovarian serous cystadenocarcinoma |
Benign; Likely benign |
rs34588160, rs12187098 |
RCV005898904 RCV005898889 |
| Sarcoma |
Benign; Likely benign |
rs76985196, rs34588160, rs12187098 |
RCV005914741 RCV005898903 RCV005898887 |
| Thymoma |
Benign |
rs12187098 |
RCV005898890 |
| Uterine corpus endometrial carcinoma |
Benign |
rs76985196 |
RCV005914742 |
| Uveal melanoma |
Benign |
rs12187098 |
RCV005898886 |
| Waardenburg syndrome |
Conflicting classifications of pathogenicity |
rs112823079 |
RCV004794544 |
|