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 215 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O60663 | non-pleiotropic | VAR_004200 | p.Arg223Gln | Disease | rs28939692 | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015193 | p.Cys83Trp | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015192 | p.Cys83Phe | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015196 | p.His137Tyr | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015209 | p.Asp106Gly | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015208 | p.Cys86Arg | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_047755 | p.Ser75Phe | Non-Disease | rs2235058 | - | - |
O60663 | non-pleiotropic | VAR_015203 | p.His77Gln | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015205 | p.Cys80Arg | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015195 | p.Cys118Tyr | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_004201 | p.Ala236Pro | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015198 | p.Trp266Cys | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015197 | p.Cys140Tyr | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015191 | p.Leu81Trp | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015211 | p.Cys146Phe | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_004203 | p.Arg249Pro | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015204 | p.His77Tyr | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015194 | p.Cys103Trp | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015213 | p.Leu252Pro | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015190 | p.His77Asn | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015206 | p.Cys83Gly | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_004205 | p.Asn269Lys | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_004198 | p.Cys118Phe | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015202 | p.Cys59Ser | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
Q92539 | non-pleiotropic | VAR_023817 | p.Ser734Leu | Disease | - | - | Majeed syndrome (MAJEEDS) [MIM:609628] |
P50851 | non-pleiotropic | VAR_057610 | p.Leu2713Phe | Non-Disease | rs34662958 | 0.0096 | - |
P50851 | non-pleiotropic | VAR_022028 | p.Ser2809Leu | Non-Disease | rs2290846 | 0.1938 | - |
P50851 | non-pleiotropic | VAR_057608 | p.Arg1997Cys | Non-Disease | rs35879351 | 0.0179 | - |
P50851 | non-pleiotropic | VAR_057609 | p.Ala2704Thr | Non-Disease | rs3749574 | 0.2107 | - |
P50851 | non-pleiotropic | VAR_057607 | p.Asn1677Ser | Non-Disease | rs17027133 | 0.0041 | - |
P50851 | non-pleiotropic | VAR_057606 | p.Gly1230Asp | Non-Disease | rs34708681 | 0.006 | - |
P50851 | non-pleiotropic | VAR_068690 | p.Ile2657Ser | Disease | - | - | Immunodeficiency, common variable, 8, with autoimmunity (CVID8) [MIM:614700] |
P50851 | non-pleiotropic | VAR_057605 | p.Ala1090Gly | Non-Disease | rs1782360 | 0.1524 | - |
Q3SXY7 | non-pleiotropic | VAR_061317 | p.Ser175Asn | Non-Disease | rs4698797 | 0.4876 | - |
Q3SXY7 | non-pleiotropic | VAR_036928 | p.Ala486Thr | Non-Disease | rs2347131 | 0.2369 | - |
Q3SXY7 | non-pleiotropic | VAR_069746 | p.Cys328Tyr | Disease | - | - | Night blindness, congenital stationary, 1F (CSNB1F) [MIM:615058] |
Q3SXY7 | non-pleiotropic | VAR_036929 | p.Thr503Met | Non-Disease | rs2347132 | 0.2374 | - |
Q3SXY7 | non-pleiotropic | VAR_036927 | p.Met336Leu | Non-Disease | rs764205 | 0.489 | - |
P98164 | non-pleiotropic | VAR_005421 | p.Ala1287Pro | Non-Disease | - | - | - |
P98164 | non-pleiotropic | VAR_020219 | p.Arg3305His | Non-Disease | rs3213760 | 0.0037 | - |
P98164 | non-pleiotropic | VAR_020218 | p.Ile2065Thr | Non-Disease | rs2228168 | 0.0018 | - |
P98164 | non-pleiotropic | VAR_005423 | p.Lys4094Glu | Non-Disease | rs2075252 | 0.258 | - |
P98164 | non-pleiotropic | VAR_005424 | p.Ile4210Leu | Non-Disease | rs4667591 | 0.4591 | - |
P98164 | non-pleiotropic | VAR_037014 | p.Arg3011Met | Non-Disease | rs11674973 | - | - |
P98164 | non-pleiotropic | VAR_061294 | p.Gly259Arg | Non-Disease | rs34693334 | 0.0363 | - |
P98164 | non-pleiotropic | VAR_029183 | p.Arg2012Lys | Non-Disease | rs4667596 | 0.0381 | - |
P98164 | non-pleiotropic | VAR_037013 | p.Tyr2522His | Disease | - | - | Donnai-Barrow syndrome (DBS) [MIM:222448] |
P98164 | non-pleiotropic | VAR_037012 | p.His1083Gln | Non-Disease | rs2302691 | - | - |
P98164 | non-pleiotropic | VAR_029184 | p.Asn2632Asp | Non-Disease | rs17848169 | 0.0188 | - |
P98164 | non-pleiotropic | VAR_037011 | p.His909Arg | Non-Disease | rs36082715 | 0.0129 | - |