| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Clear cell carcinoma of kidney |
Benign |
rs116788555 |
RCV005907400 |
| KIAA1549-related disorder |
Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs138549974, rs61734245, rs375104518, rs753283721, rs551844143, rs138395431, rs377359028, rs568706447, rs146280134, rs80222245, rs752657504, rs565452410, rs200244255, rs201109912, rs572555872, rs191728209, rs373889793, rs1336694554, rs372640527, rs551976861, rs374262068, rs748841862, rs202110418, rs765305065, rs372791474, rs773490608, rs769026956, rs1814531852, rs968580758, rs139412672, rs115152294, rs201514543, rs138709216, rs199604464, rs183617317, rs185026022, rs117908080, rs142709120, rs149565300, rs149876667 View all (25 more) |
RCV003963271 RCV003963269 RCV003973274 RCV003946199 RCV003938860 RCV003938877 RCV003965994 RCV003980420 RCV003931025 RCV004746403 RCV003940870 RCV003908859 RCV003908851 RCV003940962 RCV003908868 RCV003940915 RCV003911060 RCV003923358 RCV003951014 RCV003978801 RCV003951231 RCV003963700 RCV003961233 RCV003410583 RCV003420717 RCV003911905 RCV003927241 RCV003937116 RCV003927005 RCV003943111 RCV003975644 RCV004746125 RCV003930604 RCV004746138 RCV003912838 RCV003975722 RCV003977945 RCV003933006 RCV003950734 RCV003902959 |
| Nonpapillary renal cell carcinoma |
Likely benign |
rs374513712 |
RCV005912687 |
| Optic atrophy |
Likely benign; Uncertain significance |
rs202110418, rs371772877 |
RCV004817140 RCV004813646 |
| Ovarian serous cystadenocarcinoma |
Uncertain significance |
rs775250591 |
RCV005928309 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs767343156 |
RCV005910948 |
|
| Disease Name |
Relationship Type |
References |
| Astrocytoma |
Associate |
19603027, 20068183, 21046410, 21884820, 22157620, 22568401, 22591444, 25040262, 25524464, 26083571, 26222501, 27469209, 28002790, 28448514, 29141672, 29768357, 29802359, 31329636, 32771057, 33346834, 35210278, 35363819, 36503484 View all (8 more) |
| Brain Neoplasms |
Associate |
29976640 |
| Carcinoma |
Associate |
24422672 |
| Central Nervous System Neoplasms |
Associate |
26115961 |
| Epidermolysis bullosa with pyloric atresia |
Associate |
26083571 |
| Ganglioglioma |
Associate |
25524464 |
| Glioma |
Associate |
21884820, 22157620, 22568401, 22591444, 25040262, 26115961, 28912153 |
| Infratentorial Neoplasms |
Associate |
23702730 |
| Lymphoma Non Hodgkin |
Associate |
24767714, 25040262, 33346834, 34626238 |
| Meningeal Neoplasms |
Associate |
29802359, 32605662, 34493325 |
| Neoplasms |
Associate |
22157620, 22591444, 26115961, 26371886, 28912153, 31329636 |
| Neoplasms Neuroepithelial |
Associate |
38604736 |
| Oligodendroglioma |
Associate |
22568401 |
| Retinal Dystrophies |
Associate |
23105016 |
|