| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Developmental and epileptic encephalopathy, 2 |
Pathogenic |
rs281865365 |
RCV004767069 |
| Juvenile retinoschisis |
Likely pathogenic; Pathogenic |
rs200866925, rs281865342, rs62645889, rs281865344, rs62645895, rs104894928, rs61752062, rs281865346, rs61752075, rs61752145, rs281865335, rs61752153, rs61752158, rs61752159, rs281865336, rs281865334, rs281865348, rs61753169, rs61753171, rs61753174, rs281865354, rs281865357, rs281865363, rs281865365, rs281865364, rs281865368, rs281865369, rs62645882, rs140983930, rs281865341, rs281865340, rs2147194138, rs2147209764, rs104894929, rs2147203086, rs1464991419, rs2147191205, rs2147191292, rs2147191142, rs2147203103, rs2147189125, rs281865352, rs2147188856, rs2518937903, rs281865343, rs2518919702, rs2518938589, rs2518937898, rs2518937907, rs760405772, rs61752063, rs61752067, rs104894932, rs104894933, rs104894934, rs104894930, rs61752068, rs886041235, rs2518919972, rs1555959367, rs2518919549, rs1057516744, rs62645894, rs1057517816, rs1555957756, rs281865332, rs61752147, rs199469696, rs199469697, rs199469700, rs1927824776, rs1928220547, rs1928241490, rs1927598075, rs1927823799 View all (60 more) |
RCV001353045 RCV000010572 RCV005862505 RCV001199775 RCV001352955 RCV002477251 RCV005411323 RCV005411324 RCV005862506 RCV005411326 RCV005411327 RCV005867892 RCV005411329 RCV003467004 RCV000411096 RCV006250164 RCV006276068 RCV000411037 RCV005862507 RCV001353044 RCV000169568 RCV002272064 RCV001353041 RCV005632237 RCV001753489 RCV004566982 RCV005411332 RCV005632238 RCV005862508 RCV005411333 RCV005411334 RCV005411335 RCV006250165 RCV005411733 RCV001733782 RCV005862524 RCV005412318 RCV005607073 RCV003324575 RCV005042693 RCV002251086 RCV002251152 RCV002251250 RCV002251291 RCV002267648 RCV005862527 RCV002283670 RCV002283803 RCV002283837 RCV002307066 RCV002471435 RCV005045203 RCV005862543 RCV006262596 RCV000010564 RCV000010565 RCV000010567 RCV000010568 RCV000010569 RCV000010571 RCV000010573 RCV000010574 RCV005411395 RCV005415342 RCV003412577 RCV003466267 RCV006276100 RCV000411199 RCV000984306 RCV005411421 RCV005411470 RCV005411494 RCV001199774 RCV000058876 RCV001526768 RCV005042179 RCV001199773 RCV005411659 RCV001727839 RCV001198999 RCV001283764 |
| Macular schisis |
Pathogenic |
rs199469696 |
RCV000058876 |
| Nonpapillary renal cell carcinoma |
Likely pathogenic |
rs281865345 |
RCV005926807 |
| Peripheral schisis |
Pathogenic |
rs199469696 |
RCV000058876 |
| Retinal disorder |
Pathogenic |
rs61752068 |
RCV006253464 |
| Retinal dystrophy |
Pathogenic; Likely pathogenic |
rs1927814979, rs62645885, rs62645889, rs104894928, rs61750457, rs61752062, rs61752065, rs61752071, rs61752072, rs61752145, rs281865335, rs61752156, rs61752158, rs61752159, rs61753164, rs281865348, rs61753171, rs61753174, rs281865352, rs281865354, rs281865356, rs281865357, rs281865358, rs281865359, rs281865362, rs281865365, rs281865364, rs281865367, rs281865368, rs281865369, rs2147188897, rs2147191190, rs281865345, rs2147188942, rs2518937907, rs62645894, rs61752063, rs61752067, rs104894933, rs104894930, rs61752068, rs2518919972, rs199469697, rs1927824776, rs1386256334, rs1927703176, rs1927819239, rs1928220547, rs1928222017, rs1928241490, rs1928500368 View all (36 more) |
RCV004815354 RCV004815052 RCV004815053 RCV004815054 RCV004815055 RCV004815056 RCV004815057 RCV001073499 RCV004815058 RCV001075784 RCV004815059 RCV004815060 RCV004815061 RCV004815062 RCV001075410 RCV001075780 RCV004815063 RCV004815066 RCV004815067 RCV001075730 RCV004815068 RCV001073323 RCV001075416 RCV001074817 RCV004815070 RCV004815071 RCV004815073 RCV004815074 RCV004815075 RCV004815076 RCV001075517 RCV001074513 RCV004815719 RCV004816799 RCV004816909 RCV004816881 RCV004817200 RCV004817126 RCV001074398 RCV000210291 RCV004814879 RCV001074001 RCV001073575 RCV004818339 RCV001074417 RCV001075848 RCV004818173 RCV001075251 RCV001073801 RCV001075068 RCV001074361 RCV001074784 RCV001075307 RCV004813941 |
| Retinoschisis |
Pathogenic; Likely pathogenic |
rs281865345, rs61752075, rs61752156, rs61752158, rs281865349, rs281865352, rs2147209764, rs61752067, rs104894930, rs2518919912, rs1602308821 |
RCV001003220 RCV001003219 RCV001003218 RCV001003217 RCV001003216 RCV001003215 RCV004798926 RCV004798720 RCV001003214 RCV004515811 RCV001003213 |
| RS1-related disorder |
Pathogenic |
rs61752068, rs62645894 |
RCV003415684 RCV003392227 |
| Thyroid cancer, nonmedullary, 1 |
Pathogenic; Likely pathogenic |
rs281865348, rs281865340, rs2147189125, rs62645894, rs281865344 |
RCV005887717 RCV005887718 RCV005887719 RCV005930077 RCV005928599 RCV005931072 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
35569920 |
| Atrophy |
Associate |
34822951 |
| Autistic Disorder |
Associate |
18490926 |
| Axenfeld Rieger syndrome |
Associate |
37069516 |
| Cysts |
Associate |
18834580 |
| Cytokine Release Syndrome |
Stimulate |
33601057 |
| Glaucoma Angle Closure |
Associate |
31238476, 37069516 |
| Grouped Pigmentation of the Macula |
Associate |
26043410 |
| Hypertensive Retinopathy |
Associate |
31668851 |
| Kidney Diseases Cystic |
Associate |
37069516 |
| Kidney Failure Chronic |
Associate |
30419843 |
| Leber Congenital Amaurosis |
Stimulate |
39189993 |
| Neoplasms |
Inhibit |
35569920 |
| Night blindness congenital stationary |
Associate |
30196853 |
| Progressive hearing loss stapes fixation |
Associate |
33452396 |
| Pseudoinflammatory fundus dystrophy Finnish type |
Associate |
25999676 |
| Pulmonary Disease Chronic Obstructive |
Associate |
35281477 |
| Refsum Disease Infantile |
Associate |
35456422, 39189993 |
| Retinal Degeneration |
Associate |
35456422 |
| Retinal Detachment |
Associate |
30196853, 33460243 |
| Retinal Diseases |
Associate |
23847049, 26812435, 32423767 |
| Retinal Dystrophies |
Associate |
15937075, 39189993 |
| Retinal Perforations |
Associate |
33460243 |
| Retinitis |
Associate |
16884758, 30196853, 31668851 |
| Retinitis Pigmentosa |
Stimulate |
33452396, 39189993 |
| Retinitis Pigmentosa |
Associate |
33946315 |
| Retinoschisis |
Associate |
10533068, 11738458, 12782284, 12928282, 15937075, 16768192, 16884758, 17515881, 17615541, 18516436, 18541843, 18834580, 19390641, 19393523, 20061330, 20569020, 20806044, 21738583, 22039241, 22110067, 22245991, 23288992, 23847049, 24227916, 24505212, 24529551, 25168411, 25999676, 26043410, 26791414, 26812435, 26823236, 27609164, 27997221, 28235399, 28272453, 28348004, 29902095, 30196853, 30419843, 30630865, 31141763, 31238476, 31668851, 32050117, 32300273, 33124204, 33460243, 33567342, 33601057, 33851411, 34624300, 34822951, 34828422, 34991515, 35456481, 35569920, 36270067, 36362148, 37069516, 37372373, 38011758, 39232357, 39893900 View all (49 more) |
| Retinoschisis of Fovea |
Associate |
17515881 |
| Schisis association |
Associate |
22110067, 33124204 |
| Tooth Loss |
Associate |
26812435 |
| Vascular System Injuries |
Associate |
37640791 |
| Vision Disorders |
Associate |
21738583, 24505212, 30630865, 32300273 |
|