Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 22 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q2TAA5 | non-pleiotropic | VAR_068070 | p.Tyr279Ser | Disease | - | - | Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] |
Q2TAA5 | non-pleiotropic | VAR_068072 | p.Leu381Ser | Disease | - | - | Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] |
Q2TAA5 | non-pleiotropic | VAR_055902 | p.Asn108Ser | Non-Disease | rs17480245 | 0.017 | - |
Q2TAA5 | non-pleiotropic | VAR_068073 | p.Glu398Lys | Disease | - | - | Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] |
Q2TAA5 | non-pleiotropic | VAR_068071 | p.Gln318Pro | Disease | - | - | Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] |
Q9BV10 | non-pleiotropic | VAR_017904 | p.Thr67Met | Disease | - | - | Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] |
Q9BV10 | non-pleiotropic | VAR_017905 | p.Phe142Val | Disease | rs28942090 | - | Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] |
Q9BV10 | non-pleiotropic | VAR_024466 | p.Ile393Val | Non-Disease | rs3922872 | 0.09 | - |
Q9BV10 | non-pleiotropic | VAR_038428 | p.Gly101Arg | Disease | - | - | Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] |
Q9BV10 | non-pleiotropic | VAR_017907 | p.Leu158Pro | Disease | - | - | Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] |
Q9BV10 | non-pleiotropic | VAR_017906 | p.Arg146Gln | Disease | - | - | Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143] |
Q9NP73 | non-pleiotropic | VAR_069412 | p.Asn107Ser | Non-Disease | - | - | - |
Q9NP73 | non-pleiotropic | VAR_069218 | p.Lys94Glu | Disease | - | - | Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884] |
Q92685 | non-pleiotropic | VAR_037805 | p.Ile107Val | Non-Disease | rs2233463 | 0.0064 | - |
Q92685 | non-pleiotropic | VAR_010306 | p.Gly118Asp | Disease | rs28940588 | - | Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] |
Q92685 | non-pleiotropic | VAR_037806 | p.Arg171Gln | Disease | - | - | Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110] |
Q9Y672 | non-pleiotropic | VAR_055493 | p.Lys226Asn | Non-Disease | rs35604168 | 0.014 | - |
Q9Y672 | non-pleiotropic | VAR_022512 | p.Ser170Ile | Disease | - | - | Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] |
Q9Y672 | non-pleiotropic | VAR_022514 | p.Ser308Arg | Disease | - | - | Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] |
Q9Y672 | non-pleiotropic | VAR_022511 | p.Tyr131His | Disease | rs35383149 | 0.0134 | Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] |
Q9Y672 | non-pleiotropic | VAR_013444 | p.Ser478Pro | Disease | - | - | Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] |
Q9Y672 | non-pleiotropic | VAR_022513 | p.Gly227Glu | Disease | - | - | Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] |
Q9Y672 | non-pleiotropic | VAR_013443 | p.Ala333Val | Disease | - | - | Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147] |
Q9Y672 | non-pleiotropic | VAR_013442 | p.Phe304Ser | Non-Disease | rs4630153 | 0.1695 | - |
Q9BVK2 | non-pleiotropic | VAR_023481 | p.Asn222Ser | Non-Disease | rs665278 | 0.1524 | - |
Q9BVK2 | non-pleiotropic | VAR_023480 | p.Thr47Pro | Disease | - | - | Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] |
Q9BVK2 | non-pleiotropic | VAR_023482 | p.Gly275Asp | Disease | - | - | Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104] |
Q9BVK2 | non-pleiotropic | VAR_031596 | p.Ile439Thr | Non-Disease | rs17825668 | 0.0129 | - |
Q9H6U8 | non-pleiotropic | VAR_049222 | p.Ser255Leu | Non-Disease | rs17113312 | - | - |
Q9H6U8 | non-pleiotropic | VAR_023412 | p.Pro506Leu | Non-Disease | - | - | - |
Q9H6U8 | non-pleiotropic | VAR_049223 | p.Ile528Ser | Non-Disease | rs12575909 | 0.006 | - |
Q9H6U8 | non-pleiotropic | VAR_049221 | p.Ala232Pro | Non-Disease | rs36111204 | - | - |
Q9H6U8 | non-pleiotropic | VAR_023411 | p.Val289Ile | Non-Disease | rs10502151 | 0.3265 | - |
Q9H6U8 | non-pleiotropic | VAR_023410 | p.Tyr287Cys | Disease | - | - | Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776] |
Q9H6U8 | non-pleiotropic | VAR_023413 | p.Glu523Lys | Disease | - | - | Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776] |
Q9UM73 | non-pleiotropic | VAR_041477 | p.Ser90Leu | Non-Disease | rs34617074 | - | - |
Q9UM73 | non-pleiotropic | VAR_031044 | p.Asp1529Glu | Non-Disease | rs1881421 | 0.4348 | - |
Q9UM73 | non-pleiotropic | VAR_031043 | p.Lys1491Arg | Non-Disease | rs1881420 | 0.3949 | - |
Q9UM73 | non-pleiotropic | VAR_041485 | p.Thr1012Met | Non-Disease | rs35073634 | 0.0041 | - |
Q9UM73 | non-pleiotropic | VAR_063858 | p.Phe1174Val | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063856 | p.Phe1174Ile | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063862 | p.Phe1245Val | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_041490 | p.Glu1419Lys | Non-Disease | rs56181542 | 0.0005 | - |
Q9UM73 | non-pleiotropic | VAR_063861 | p.Phe1245Cys | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063850 | p.Asp1091Asn | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_063860 | p.Ala1234Thr | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_055987 | p.Phe1376Ser | Non-Disease | rs17694720 | - | - |
Q9UM73 | non-pleiotropic | VAR_061288 | p.Leu868Gln | Non-Disease | rs55941323 | 0.0002 | - |
Q9UM73 | non-pleiotropic | VAR_063855 | p.Phe1174Cys | Disease | - | - | Neuroblastoma 3 (NBLST3) [MIM:613014] |
Q9UM73 | non-pleiotropic | VAR_041487 | p.Ala1274Thr | Non-Disease | rs45502292 | - | - |