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 65 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P00746 | non-pleiotropic | VAR_034867 | p.Cys214Arg | Disease | - | - | Complement factor D deficiency (CFDD) [MIM:613912] |
P00746 | non-pleiotropic | VAR_034868 | p.Ile248Met | Non-Disease | rs2230216 | 0.0372 | - |
P00746 | non-pleiotropic | VAR_034866 | p.Val213Gly | Disease | - | - | Complement factor D deficiency (CFDD) [MIM:613912] |
P08603 | pleiotropic | VAR_043892 | p.Thr493Arg | Non-Disease | rs1061171 | - | - |
P08603 | pleiotropic | VAR_025871 | p.Tyr1021Phe | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025885 | p.Arg1210Cys | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] Macular degeneration, age-related, 4 (ARMD4) [MIM:610698] |
P08603 | pleiotropic | VAR_025883 | p.Val1197Ala | Disease | rs460184 | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_019406 | p.Cys959Tyr | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_001979 | p.Tyr402His | Non-Disease | rs1061170 | 0.2666 | - |
P08603 | pleiotropic | VAR_031985 | p.Cys915Ser | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025872 | p.Cys1043Arg | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025095 | p.Thr1017Ile | Non-Disease | rs34362004 | 0.0041 | - |
P08603 | pleiotropic | VAR_063649 | p.Val609Ile | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_019405 | p.Cys536Arg | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_031984 | p.His893Arg | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_031981 | p.Cys431Ser | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_031978 | p.Arg127Leu | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_063650 | p.Ile1169Leu | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025877 | p.Trp1157Arg | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025870 | p.Trp978Cys | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025868 | p.Tyr951His | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025878 | p.Cys1163Trp | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025097 | p.Ile1059Thr | Non-Disease | rs35343172 | 0.023 | - |
P08603 | pleiotropic | VAR_025093 | p.Ser890Ile | Non-Disease | rs515299 | 0.0519 | - |
P08603 | pleiotropic | VAR_025873 | p.Gln1076Glu | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_025092 | p.Ile551Thr | Non-Disease | rs35453854 | 0.017 | - |
P08603 | pleiotropic | VAR_025866 | p.Glu850Lys | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_031982 | p.Cys673Ser | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_025879 | p.Trp1183Leu | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025874 | p.Asp1119Gly | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_025880 | p.Trp1183Arg | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025875 | p.Val1134Gly | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025882 | p.Gly1194Asp | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_019407 | p.Leu1189Arg | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_019408 | p.Ser1191Leu | Disease | rs460897 | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_043894 | p.Val1007Leu | Non-Disease | rs534399 | 0.0748 | - |
P08603 | pleiotropic | VAR_025881 | p.Thr1184Arg | Disease | - | - | Complement factor H deficiency (CFHD) [MIM:609814] |
P08603 | pleiotropic | VAR_063648 | p.Cys325Tyr | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025096 | p.Asn1050Tyr | Non-Disease | rs35274867 | 0.0124 | - |
P08603 | pleiotropic | VAR_025888 | p.Pro1226Ser | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025867 | p.Gln950His | Disease | rs149474608 | 0.0016 | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025884 | p.Glu1198Ala | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_025864 | p.Arg78Gly | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_063651 | p.Trp1183Cys | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_031983 | p.Cys673Tyr | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_020261 | p.Glu936Asp | Non-Disease | rs1065489 | 0.2332 | - |
P08603 | pleiotropic | VAR_025865 | p.Cys630Trp | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_043896 | p.Gln1143Glu | Non-Disease | rs34247141 | 0.0303 | - |
P08603 | pleiotropic | VAR_031986 | p.Phe1199Ser | Disease | - | - | Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] |
P08603 | pleiotropic | VAR_055683 | p.Asn997Thr | Non-Disease | rs17575212 | - | - |