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 195 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P26006 | non-pleiotropic | VAR_055967 | p.Ile268Phe | Non-Disease | rs2230390 | 0.0002 | - |
P26006 | non-pleiotropic | VAR_068808 | p.Arg628Pro | Disease | - | - | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) [MIM:614748] |
P26006 | non-pleiotropic | VAR_055969 | p.Gly840Ser | Non-Disease | rs2301626 | 0.0032 | - |
P53708 | non-pleiotropic | VAR_018675 | p.Gln581Pro | Non-Disease | rs9333269 | 0.0496 | - |
P53708 | non-pleiotropic | VAR_018678 | p.Val994Ala | Non-Disease | rs1041135 | 0.0861 | - |
P53708 | non-pleiotropic | VAR_034682 | p.Val567Leu | Non-Disease | - | - | - |
P53708 | non-pleiotropic | VAR_071107 | p.Gly407Arg | Disease | - | - | Renal hypodysplasia/aplasia 1 (RHDA1) [MIM:191830] |
P53708 | non-pleiotropic | VAR_018674 | p.Ser577Phe | Non-Disease | rs2298033 | 0.0468 | - |
P53708 | non-pleiotropic | VAR_018677 | p.Ile993Val | Non-Disease | rs9333241 | 0.0032 | - |
P53708 | non-pleiotropic | VAR_018676 | p.Arg748His | Non-Disease | rs9333174 | 0.0023 | - |
P53708 | non-pleiotropic | VAR_018673 | p.Val216Leu | Non-Disease | rs7895372 | 0.0285 | - |
P05107 | non-pleiotropic | VAR_003988 | p.Lys196Thr | Disease | rs137852610 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_003991 | p.Arg586Trp | Disease | rs5030672 | 0.0024 | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_003985 | p.Leu149Pro | Disease | rs137852611 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_065664 | p.Gly716Ala | Disease | rs179363872 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_065661 | p.Asp128Tyr | Disease | rs137852615 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_003987 | p.Pro178Leu | Disease | rs137852614 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_013402 | p.Ser138Pro | Disease | rs137852617 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_065662 | p.Ala239Thr | Disease | rs179363873 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_003992 | p.Arg593Cys | Disease | rs137852609 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_003986 | p.Gly169Arg | Disease | rs137852612 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_013403 | p.Gly273Arg | Disease | rs137852618 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_065663 | p.Asp300Val | Disease | rs179363874 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_003990 | p.Asn351Ser | Disease | rs137852613 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_030035 | p.Gln354His | Non-Disease | rs235330 | 0.0 | - |
P05107 | non-pleiotropic | VAR_003989 | p.Gly284Ser | Disease | rs137852616 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
P05107 | non-pleiotropic | VAR_003984 | p.Asp128Asn | Disease | rs137852615 | - | Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] |
Q08881 | non-pleiotropic | VAR_041713 | p.Arg581Trp | Non-Disease | rs34482255 | 0.0018 | - |
Q08881 | non-pleiotropic | VAR_041714 | p.Val587Ile | Non-Disease | rs56005928 | 0.0032 | - |
Q08881 | non-pleiotropic | VAR_051696 | p.Arg193Gln | Non-Disease | rs17054374 | 0.0005 | - |
Q08881 | non-pleiotropic | VAR_063424 | p.Arg335Trp | Disease | rs121908191 | - | Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011] |
Q9BY32 | non-pleiotropic | VAR_015576 | p.Pro32Thr | Disease | rs1127354 | 0.0895 | Inosine triphosphate pyrophosphohydrolase deficiency (ITPAD) [MIM:613850] |
P26440 | non-pleiotropic | VAR_070061 | p.Ala94Gly | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_015963 | p.Cys357Arg | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_015961 | p.Asp69Asn | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_000424 | p.Gly199Val | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_070065 | p.Tyr400Cys | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_015962 | p.Ala311Val | Disease | rs28940889 | 0.0004 | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_070062 | p.Gly120Arg | Disease | rs142761835 | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_070063 | p.Ile196Met | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_015964 | p.Val371Ala | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_070064 | p.Leu276Pro | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_015966 | p.Arg411Leu | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_015965 | p.Arg392Cys | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_015960 | p.Arg50Pro | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
P26440 | non-pleiotropic | VAR_000423 | p.Leu42Pro | Disease | - | - | Isovaleric acidemia (IVA) [MIM:243500] |
Q6PHW0 | non-pleiotropic | VAR_045963 | p.Arg101Trp | Disease | - | - | Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] |
Q6PHW0 | non-pleiotropic | VAR_045965 | p.Ile116Thr | Disease | - | - | Thyroid dyshormonogenesis 4 (TDH4) [MIM:274800] |
Q6PHW0 | non-pleiotropic | VAR_025785 | p.Leu260Pro | Non-Disease | rs17854906 | - | - |
Q6PHW0 | non-pleiotropic | VAR_045966 | p.Glu271Lys | Non-Disease | rs36063028 | 0.0601 | - |