Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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UniProtID
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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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 - -