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 1 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9NRG9 non-pleiotropic VAR_012806 p.Ser263Pro Disease rs121918550 0.0002 Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
Q9NRG9 non-pleiotropic VAR_012805 p.His160Arg Disease - - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
Q9NRG9 non-pleiotropic VAR_037060 p.Lys108Met Non-Disease rs13330 - -
Q9NRG9 non-pleiotropic VAR_012804 p.Gln15Lys Disease - - Achalasia-addisonianism-alacrima syndrome (AAAS) [MIM:231550]
Q16613 non-pleiotropic VAR_048168 p.Arg15Cys Non-Disease rs34470791 - -
Q16613 non-pleiotropic VAR_055086 p.Ala129Thr Disease rs28936679 0.0048 Delayed sleep phase syndrome (DSPS) [MIM:614163]
P49588 non-pleiotropic VAR_063527 p.Arg329His Disease - - Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
P49588 non-pleiotropic VAR_028204 p.Gly275Asp Non-Disease rs11537667 0.056 -
P49588 non-pleiotropic VAR_067084 p.Asn71Tyr Disease - - Charcot-Marie-Tooth disease 2N (CMT2N) [MIM:613287]
Q5JTZ9 non-pleiotropic VAR_065956 p.Leu155Arg Disease - - Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
Q5JTZ9 non-pleiotropic VAR_027610 p.Ala484Asp Non-Disease rs495294 - -
Q5JTZ9 non-pleiotropic VAR_065957 p.Arg592Trp Disease - - Combined oxidative phosphorylation deficiency 8 (COXPD8) [MIM:614096]
Q5JTZ9 non-pleiotropic VAR_057357 p.Met850Val Non-Disease rs35783144 0.0142 -
Q5JTZ9 non-pleiotropic VAR_027609 p.Ile339Val Non-Disease rs324136 0.0886 -
P80404 non-pleiotropic VAR_008883 p.Arg220Lys Disease - - GABA transaminase deficiency (GABATD) [MIM:613163]
P80404 non-pleiotropic VAR_018979 p.Gln56Arg Non-Disease rs1731017 0.4992 -
Q99758 non-pleiotropic VAR_023499 p.Leu1553Pro Disease - - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
Q99758 non-pleiotropic VAR_025062 p.Pro766Ser Non-Disease rs45592239 0.0005 -
Q99758 non-pleiotropic VAR_023498 p.Asn568Asp Disease - - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
Q99758 non-pleiotropic VAR_025061 p.Asn140His Non-Disease rs45447801 0.0014 -
Q99758 non-pleiotropic VAR_023497 p.Leu101Pro Disease rs28936412 - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
Q99758 non-pleiotropic VAR_023500 p.Gln1591Pro Disease rs28936691 - Pulmonary surfactant metabolism dysfunction 3 (SMDP3) [MIM:610921]
P21439 pleiotropic VAR_043079 p.Pro95Ser Non-Disease - - -
P21439 pleiotropic VAR_043094 p.Asp564Gly Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043082 p.Phe165Ile Disease - - Gallbladder disease 1 (GBD1) [MIM:600803]
P21439 pleiotropic VAR_043091 p.Gly535Asp Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043102 p.Ala934Thr Disease rs61730509 0.0046 Gallbladder disease 1 (GBD1) [MIM:600803]
P21439 pleiotropic VAR_043095 p.Arg590Gln Non-Disease rs45575636 0.0073 -
P21439 pleiotropic VAR_043081 p.Arg150Lys Disease - - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
P21439 pleiotropic VAR_020223 p.Leu238Val Non-Disease rs45596335 0.0009 -
P21439 pleiotropic VAR_043084 p.Ser346Ile Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043099 p.Gly762Glu Disease - - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
P21439 pleiotropic VAR_043101 p.Thr775Met Non-Disease - - -
P21439 pleiotropic VAR_043093 p.Leu556Arg Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043103 p.Gly983Ser Disease rs56187107 - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043078 p.Asp87Glu Non-Disease - - -
P21439 pleiotropic VAR_030765 p.Thr651Asn Non-Disease rs45476795 0.0014 -
P21439 pleiotropic VAR_043098 p.Gly742Ser Non-Disease - - -
P21439 pleiotropic VAR_043097 p.Phe711Ser Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043085 p.Ile367Val Non-Disease - - -
P21439 pleiotropic VAR_020225 p.Arg652Gly Non-Disease rs2230028 0.1414 -
P21439 pleiotropic VAR_024359 p.Arg788Gln Non-Disease rs8187801 0.023 -
P21439 pleiotropic VAR_043080 p.Trp138Arg Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_030763 p.Ile263Val Non-Disease rs45547936 0.0005 -
P21439 pleiotropic VAR_023503 p.Ala546Asp Disease - - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
P21439 pleiotropic VAR_023502 p.Ser320Phe Disease - - Cholestasis of pregnancy, intrahepatic 3 (ICP3) [MIM:614972]
Gallbladder disease 1 (GBD1) [MIM:600803]
P21439 pleiotropic VAR_023504 p.Pro1168Ser Disease - - Gallbladder disease 1 (GBD1) [MIM:600803]
P21439 pleiotropic VAR_043096 p.Leu591Gln Disease - - Gallbladder disease 1 (GBD1) [MIM:600803]
P21439 pleiotropic VAR_043086 p.Glu395Gly Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043088 p.Val425Met Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]