| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Benign |
rs760634967, rs72786612 |
RCV005868612 RCV005894902 |
| Cervical cancer |
Benign |
rs760634967 |
RCV005868614 |
| Diabetes mellitus |
Uncertain significance |
rs146486664 |
RCV001172531 |
| Gastric cancer |
Benign |
rs760634967 |
RCV005868616 |
| Hyperglycemia |
Uncertain significance |
rs1553312826 |
RCV000626848 |
| KLF11-related disorder |
Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity |
rs199770737, rs767344976, rs773538909, rs2527711763, rs121912645, rs1661427500, rs151292984, rs550244177, rs201595721, rs1033487145, rs1026529156, rs760407198, rs371589306, rs371102481, rs1199402441, rs757926432, rs137865082, rs146238335, rs34762805, rs781433096 View all (5 more) |
RCV003943788 RCV004750232 RCV003410033 RCV003412419 RCV003422512 RCV003414458 RCV003946691 RCV003946717 RCV003901335 RCV003901541 RCV003901812 RCV003899739 RCV003897286 RCV003921829 RCV003937403 RCV003983667 RCV003961872 RCV003942464 RCV003912785 RCV003963072 |
| Malignant tumor of esophagus |
Benign |
rs760634967 |
RCV005868613 |
| Maturity-onset diabetes of the young |
Benign; Uncertain significance; Likely benign |
rs372827624, rs886054725, rs34206941, rs1553314463, rs149067484, rs1553312826 |
RCV000366591 RCV000298714 RCV000289498 RCV000329270 RCV000276813 RCV000381505 RCV000626848 |
| Maturity-onset diabetes of the young type 7 |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs144083374, rs757875185, rs368207952, rs35927125, rs964899969, rs148968483, rs151317435, rs145193520, rs1476684022, rs121912645, rs34336420, rs759416179, rs1269560894, rs766187124, rs200561467, rs370039403, rs146486664, rs531131204, rs552960564, rs191010106, rs72786612, rs113527829, rs550807244, rs4669522, rs886054734, rs139703378, rs886054722, rs150096859, rs757905542, rs201792575, rs113903638, rs146462049, rs375265808, rs886054724, rs140559044, rs150051327, rs187519040, rs574996537, rs183240123, rs886054729, rs886054731, rs6722205, rs557209557, rs146068438, rs886054736, rs757068768, rs886054717, rs886054718, rs886054721, rs576350323, rs759266535, rs886054723, rs563767876, rs76220150, rs201145049, rs4444493, rs886054727, rs886054728, rs886054730, rs142746538, rs886054735, rs7632, rs148123124, rs144897109, rs199624763, rs201735305, rs545836068, rs886054732, rs571234569, rs886054733, rs534714754, rs149368043, rs374436407, rs1327726598, rs146238335, rs144431930, rs34762805, rs1445533585, rs868540286, rs943136426, rs1038766626, rs1377863567, rs781433096, rs753049849, rs377399356, rs142266428, rs145588324, rs1347317649, rs200061013, rs149235463, rs1661291203, rs776725808, rs775364750, rs370236540, rs117449189, rs752588055, rs750063435, rs868399686, rs36091043, rs576978858, rs147746428, rs777727299, rs920552860, rs144723641, rs146942100, rs148235172, rs555032852, rs1572448681, rs367805998, rs374263399, rs911685125, rs1056465665 View all (97 more) |
RCV002503245 RCV002482360 RCV002503317 RCV000321050 RCV002492301 RCV002507610 RCV002507614 RCV002505814 RCV002500248 RCV000006871 RCV000006872 RCV003329145 RCV003333865 RCV000262445 RCV000293457 RCV000345993 RCV000339444 RCV000330206 RCV000387231 RCV000286414 RCV000341368 RCV000308312 RCV000363011 RCV000280015 RCV000375726 RCV000306354 RCV000360429 RCV000268105 RCV000359484 RCV000372911 RCV000294839 RCV000333478 RCV000345253 RCV000305609 RCV000369758 RCV000380470 RCV000296835 RCV000337831 RCV000311923 RCV000273251 RCV000377927 RCV000349725 RCV000295844 RCV000350730 RCV000402110 RCV000365585 RCV000400988 RCV000309523 RCV000308079 RCV000319853 RCV000287486 RCV000400205 RCV000356724 RCV000271753 RCV000342177 RCV000401814 RCV000391512 RCV000371385 RCV000328308 RCV000316357 RCV000281209 RCV000390306 RCV000384196 RCV000407600 RCV000299545 RCV000259648 RCV000277448 RCV000264641 RCV000324342 RCV000378994 RCV000392577 RCV000303198 RCV005392682 RCV005023522 RCV002502592 RCV001133425 RCV001134909 RCV001133319 RCV001133320 RCV001133321 RCV001133322 RCV001134794 RCV001134795 RCV001129808 RCV001129809 RCV001129810 RCV001129811 RCV001129812 RCV001132499 RCV001132500 RCV001132501 RCV001133426 RCV001133427 RCV001134907 RCV001134908 RCV001134910 RCV001129890 RCV001129891 RCV001129892 RCV001129893 RCV001129894 RCV001130599 RCV001130600 RCV001133546 RCV001133547 RCV001133548 RCV001135037 RCV001130008 RCV001130009 RCV001130722 RCV001130723 RCV001133681 RCV001133682 |
| Monogenic diabetes |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs145933214, rs34336420, rs150096859, rs148123124, rs1057524882, rs146238335, rs144431930, rs34762805 |
RCV000664078 RCV000445442 RCV000445417 RCV000664079 RCV000445371 RCV000445489 RCV000445493 RCV000445374 |
| Thymoma |
Benign |
rs72786612 |
RCV005894903 |
| Type 2 diabetes mellitus |
Benign; Likely benign |
rs35927125 |
RCV002250563 |
| Uterine corpus endometrial carcinoma |
Benign |
rs760634967 |
RCV005868617 |
| Uveal melanoma |
Benign |
rs760634967 |
RCV005868615 |
|
| Disease Name |
Relationship Type |
References |
| Adenocarcinoma of Lung |
Associate |
37248295 |
| Alcoholism |
Associate |
23915421 |
| Breast Neoplasms |
Associate |
31640084, 37199905 |
| Colonic Neoplasms |
Associate |
31612481 |
| Depressive Disorder |
Associate |
22348086, 32524199 |
| Depressive Disorder Major |
Associate |
32524199 |
| Diabetes Mellitus |
Associate |
15774581, 29758564, 33604390, 36208030 |
| Diabetes Mellitus Type 2 |
Associate |
15774581, 18199129, 19122346, 19843526, 22348086, 32741144, 35592779, 36208030 |
| Genetic Diseases Inborn |
Associate |
22348086 |
| Insulinoma |
Associate |
39536727 |
| Leiomyoma |
Inhibit |
20124487 |
| Leiomyoma |
Associate |
22428009 |
| Mason Type Diabetes |
Associate |
19843526 |
| Maturity Onset Diabetes of the Young Type 7 |
Associate |
33604390 |
| Metabolic Diseases |
Associate |
24885560 |
| Neoplasm Metastasis |
Associate |
37199905 |
| Neoplasms |
Inhibit |
17114344, 22428009, 33571129 |
| Neoplasms |
Associate |
24885560 |
| Neuroendocrine Tumors |
Associate |
39536727 |
| Neuroma Acoustic |
Associate |
31146115 |
| Neurotoxicity Syndromes |
Associate |
19526291 |
| Pancreatic Neoplasms |
Associate |
17114344 |
| Panic Disorder |
Associate |
32524199 |
| Sarcoma |
Inhibit |
33571129 |
| Uterine Cervical Neoplasms |
Associate |
25119587 |
|