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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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 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]