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 66 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P08603 | pleiotropic | VAR_025869 | p.Thr956Met | Disease | rs145975787 | 0.0012 | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025887 | p.Arg1215Gln | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_025886 | p.Arg1215Gly | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_055684 | p.Ala1010Thr | Non-Disease | rs11539862 | - | - |
P08603 | pleiotropic | VAR_025094 | p.Val1007Ile | Non-Disease | - | - | - |
P08603 | pleiotropic | VAR_023836 | p.Val62Ile | Non-Disease | rs800292 | 0.4348 | - |
P08603 | pleiotropic | VAR_031980 | p.Gln400Lys | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025876 | p.Tyr1142Asp | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P05156 | pleiotropic | VAR_063672 | p.Lys522Thr | Disease | - | - | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_070843 | p.Gly188Ala | Non-Disease | - | - | - |
P05156 | pleiotropic | VAR_063670 | p.Ile416Leu | Disease | rs61733901 | 0.0028 | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_030344 | p.Asp524Val | Disease | - | - | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_063667 | p.His183Arg | Disease | rs75612300 | 0.0016 | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_063668 | p.Gly287Arg | Disease | rs182078921 | 0.0002 | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_026757 | p.His418Leu | Disease | - | - | Complement factor I deficiency (CFI deficiency) [MIM:610984] |
P05156 | pleiotropic | VAR_063666 | p.Gly119Arg | Disease | - | - | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] Macular degeneration, age-related, 13 (ARMD13) [MIM:615439] |
P05156 | pleiotropic | VAR_063671 | p.Asp519Asn | Disease | - | - | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_030343 | p.Ile340Thr | Disease | - | - | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_034907 | p.Gly243Asp | Disease | - | - | Complement factor I deficiency (CFI deficiency) [MIM:610984] |
P05156 | pleiotropic | VAR_063665 | p.Pro64Leu | Disease | - | - | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_063669 | p.Arg317Trp | Disease | - | - | Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] |
P05156 | pleiotropic | VAR_034908 | p.Thr300Ala | Non-Disease | rs11098044 | 0.0326 | - |
Q9Y281 | non-pleiotropic | VAR_031989 | p.Ala35Thr | Disease | - | - | Nemaline myopathy 7 (NEM7) [MIM:610687] |
P27918 | non-pleiotropic | VAR_002003 | p.Gln343Arg | Disease | - | - | Properdin deficiency (PFD) [MIM:312060] |
P27918 | non-pleiotropic | VAR_020395 | p.Val53Met | Non-Disease | rs8177068 | 0.0006 | - |
P27918 | non-pleiotropic | VAR_013139 | p.Gly298Val | Disease | rs28935480 | - | Properdin deficiency (PFD) [MIM:312060] |
P27918 | non-pleiotropic | VAR_002004 | p.Tyr414Asp | Disease | - | - | Properdin deficiency (PFD) [MIM:312060] |
P27918 | non-pleiotropic | VAR_020397 | p.Gly250Ser | Non-Disease | rs8177077 | 0.003 | - |
P27918 | non-pleiotropic | VAR_002002 | p.Arg100Trp | Disease | - | - | Properdin deficiency (PFD) [MIM:312060] |
P27918 | non-pleiotropic | VAR_020396 | p.Pro204Leu | Non-Disease | rs8177076 | 0.0097 | - |
P13569 | pleiotropic | VAR_000241 | p.Arg1070Gln | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000168 | p.Ile506Val | Non-Disease | - | - | - |
P13569 | pleiotropic | VAR_009900 | p.Gln353His | Non-Disease | rs1800087 | - | - |
P13569 | pleiotropic | VAR_009895 | p.Leu138Pro | Non-Disease | rs1800078 | - | - |
P13569 | pleiotropic | VAR_000154 | p.Arg347Leu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000163 | p.Leu467Phe | Non-Disease | rs1800089 | - | - |
P13569 | pleiotropic | VAR_000106 | p.Asp44Val | Non-Disease | rs1800074 | - | - |
P13569 | pleiotropic | VAR_000234 | p.Leu1065Pro | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000179 | p.Gly551Asp | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000261 | p.Trp1282Arg | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000155 | p.Arg347Pro | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000270 | p.Val1397Glu | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000142 | p.Tyr301Cys | Disease | rs150691494 | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_009897 | p.Ser182Gly | Non-Disease | rs1800080 | - | - |
P13569 | pleiotropic | VAR_000198 | p.Ile601Phe | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000193 | p.Leu571Ser | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000185 | p.Arg560Ser | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000174 | p.Val520Phe | Disease | rs77646904 | 0.001 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000148 | p.Arg334Trp | Disease | rs121909011 | 0.0002 | Cystic fibrosis (CF) [MIM:219700] |
P13569 | pleiotropic | VAR_000101 | p.Ser13Phe | Disease | - | - | Cystic fibrosis (CF) [MIM:219700] |