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 85 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02461 | pleiotropic | VAR_001769 | p.Gly201Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001789 | p.Gly957Ser | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011106 | p.Gly249Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011122 | p.Gly552Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001806 | p.Gly1188Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011123 | p.Gly588Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001807 | p.Gly1188Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011120 | p.Gly519Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011133 | p.Gly852Cys | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001775 | p.Pro602Thr | Non-Disease | rs35795890 | 0.0055 | - |
P02461 | pleiotropic | VAR_001804 | p.Gly1185Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001781 | p.Gly762Cys | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001768 | p.Gly183Cys | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011134 | p.Gly879Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011135 | p.Gly882Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011113 | p.Gly321Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011137 | p.Gly903Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011111 | p.Gly264Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011104 | p.Gly243Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001805 | p.Gly1185Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011138 | p.Gly909Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011136 | p.Gly900Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001772 | p.Gly540Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001778 | p.Ala698Thr | Non-Disease | rs1800255 | 0.2094 | - |
P02461 | pleiotropic | VAR_001793 | p.Gly1050Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011132 | p.Gly828Trp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011115 | p.Gly345Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011125 | p.Gly657Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011096 | p.Gly183Ser | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011148 | p.Gly1035Cys | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011100 | p.Gly210Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011128 | p.Gly699Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_037007 | p.Gly297Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011159 | p.Gly1179Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011110 | p.Gly255Val | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_011105 | p.Gly249Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_055666 | p.Ala679Thr | Non-Disease | rs41263773 | 0.0014 | - |
P02461 | pleiotropic | VAR_011103 | p.Gly240Arg | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_020012 | p.Ile1205Val | Non-Disease | rs2271683 | 0.0165 | - |
P02461 | pleiotropic | VAR_055665 | p.Gly534Glu | Non-Disease | rs41263744 | - | - |
P02461 | pleiotropic | VAR_011151 | p.Gly1089Asp | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02461 | pleiotropic | VAR_001792 | p.Gly1014Glu | Disease | - | - | Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] |
P02462 | pleiotropic | VAR_020013 | p.Gln1334His | Non-Disease | rs3742207 | 0.2925 | - |
P02462 | pleiotropic | VAR_064498 | p.Gly805Arg | Disease | - | - | Brain small vessel disease with hemorrhage (BSVDH) [MIM:607595] |
P02462 | pleiotropic | VAR_044159 | p.Gly498Val | Disease | - | - | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] |
P02462 | pleiotropic | VAR_044160 | p.Gly519Arg | Disease | - | - | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] |
P02462 | pleiotropic | VAR_030031 | p.Gly1236Arg | Disease | - | - | Porencephaly 1 (POREN1) [MIM:175780] |
P02462 | pleiotropic | VAR_030027 | p.Val7Leu | Non-Disease | rs9515185 | 0.4385 | - |
P02462 | pleiotropic | VAR_030032 | p.Gly1423Arg | Disease | - | - | Porencephaly 1 (POREN1) [MIM:175780] |
P02462 | pleiotropic | VAR_064495 | p.Gly525Leu | Disease | - | - | Hereditary angiopathy with nephropathy aneurysms and muscle cramps (HANAC) [MIM:611773] |