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 200 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
B7U540 | non-pleiotropic | VAR_063289 | p.Lys366Arg | Disease | - | - | Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] |
P63252 | pleiotropic | VAR_065862 | p.Thr75Arg | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_017852 | p.Asp71Val | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_065864 | p.Thr305Pro | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_017856 | p.Arg218Trp | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_017858 | p.Val302Met | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_017854 | p.Pro186Leu | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_065863 | p.Val93Ile | Disease | - | - | Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980] |
P63252 | pleiotropic | VAR_017855 | p.Asn216His | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_017851 | p.Arg67Trp | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_065861 | p.Cys54Phe | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_017857 | p.Gly300Val | Disease | - | - | Long QT syndrome 7 (LQT7) [MIM:170390] |
P63252 | pleiotropic | VAR_023842 | p.Asp172Asn | Disease | - | - | Short QT syndrome 3 (SQT3) [MIM:609622] |
P48544 | pleiotropic | VAR_065931 | p.Thr158Ala | Disease | - | - | Familial hyperaldosteronism 3 (FH3) [MIM:613677] |
P48544 | pleiotropic | VAR_063107 | p.Gln282Glu | Non-Disease | rs7102584 | 0.005 | - |
P48544 | pleiotropic | VAR_067090 | p.Gly151Glu | Disease | - | - | Familial hyperaldosteronism 3 (FH3) [MIM:613677] |
P48544 | pleiotropic | VAR_065929 | p.Arg39His | Non-Disease | - | - | - |
P48544 | pleiotropic | VAR_063766 | p.Gly387Arg | Disease | rs199830292 | 0.0002 | Long QT syndrome 13 (LQT13) [MIM:613485] |
P48544 | pleiotropic | VAR_065933 | p.Met210Ile | Non-Disease | rs138295501 | - | - |
P48544 | pleiotropic | VAR_065930 | p.Gly151Arg | Disease | - | - | Familial hyperaldosteronism 3 (FH3) [MIM:613677] |
Q15842 | non-pleiotropic | VAR_049670 | p.Val334Ala | Non-Disease | rs34811413 | 0.0198 | - |
Q15842 | non-pleiotropic | VAR_065225 | p.Ser422Leu | Non-Disease | rs72554071 | 0.0002 | - |
Q15842 | non-pleiotropic | VAR_065879 | p.Val346Ile | Disease | - | - | Sudden infant death syndrome (SIDS) [MIM:272120] |
O14649 | non-pleiotropic | VAR_070131 | p.Val221Leu | Disease | - | - | Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] |
O14649 | non-pleiotropic | VAR_070126 | p.Thr8Lys | Disease | - | - | Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] |
O14649 | non-pleiotropic | VAR_070127 | p.Gly97Arg | Disease | - | - | Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] |
O14649 | non-pleiotropic | VAR_070130 | p.Gly203Asp | Disease | - | - | Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] |
O14649 | non-pleiotropic | VAR_070129 | p.Tyr192Cys | Disease | - | - | Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] |
O14649 | non-pleiotropic | VAR_070128 | p.Glu182Lys | Disease | - | - | Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344] |
Q9NPC2 | non-pleiotropic | VAR_054373 | p.Gly236Arg | Disease | - | - | Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292] |
Q12791 | non-pleiotropic | VAR_023821 | p.Asp434Gly | Disease | - | - | Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446] |
P51787 | pleiotropic | VAR_001545 | p.Arg555Cys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009928 | p.Ser349Trp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068307 | p.Gly316Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001543 | p.Arg366Pro | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009181 | p.Ala525Thr | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068292 | p.Ile204Phe | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068303 | p.Ala302Val | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_023841 | p.Val307Leu | Disease | - | - | Short QT syndrome 2 (SQT2) [MIM:609621] |
P51787 | pleiotropic | VAR_068324 | p.Gly626Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001529 | p.Thr309Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068315 | p.Val524Gly | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009919 | p.Glu160Lys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_008948 | p.Arg366Trp | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_015742 | p.Ser140Gly | Disease | - | - | Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554] |
P51787 | pleiotropic | VAR_001521 | p.Gly216Arg | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_009925 | p.Gly269Ser | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001520 | p.Arg190Gln | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_001523 | p.Glu261Lys | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |
P51787 | pleiotropic | VAR_068288 | p.Glu115Gly | Disease | - | - | Long QT syndrome 1 (LQT1) [MIM:192500] |