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 2 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P21439 pleiotropic VAR_043087 p.Thr424Ala Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
P21439 pleiotropic VAR_043089 p.Glu450Gly Non-Disease - - -
P21439 pleiotropic VAR_043083 p.Met301Thr Disease - - Gallbladder disease 1 (GBD1) [MIM:600803]
P21439 pleiotropic VAR_023501 p.Thr175Ala Non-Disease rs58238559 0.006 -
P21439 pleiotropic VAR_043090 p.Glu528Asp Non-Disease rs8187797 0.0096 -
P21439 pleiotropic VAR_043092 p.Ile541Phe Disease - - Cholestasis, progressive familial intrahepatic, 3 (PFIC3) [MIM:602347]
O75027 non-pleiotropic VAR_067354 p.Glu208Asp Disease - - Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75027 non-pleiotropic VAR_009156 p.Ile400Met Disease - - Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75027 non-pleiotropic VAR_012640 p.Glu433Lys Disease - - Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75027 non-pleiotropic VAR_022872 p.Arg315Gly Non-Disease - - -
O75027 non-pleiotropic VAR_022873 p.Phe346Ile Non-Disease - - -
O75027 non-pleiotropic VAR_037972 p.Val581Ala Non-Disease rs1340989 0.0837 -
O75027 non-pleiotropic VAR_022874 p.Val411Leu Disease - - Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]
O75027 non-pleiotropic VAR_055471 p.Ala580Val Non-Disease rs1340989 0.0532 -
Q92887 non-pleiotropic VAR_013327 p.Arg1150His Disease - - Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887 non-pleiotropic VAR_013324 p.Ser281Asn Non-Disease rs56131651 0.0073 -
Q92887 non-pleiotropic VAR_029113 p.Met246Leu Non-Disease rs17222744 0.0005 -
Q92887 non-pleiotropic VAR_013326 p.Ser789Phe Non-Disease rs56220353 0.0032 -
Q92887 non-pleiotropic VAR_029115 p.Lys495Glu Non-Disease rs17222561 0.0023 -
Q92887 non-pleiotropic VAR_020231 p.Arg1181Leu Non-Disease rs8187692 0.0257 -
Q92887 non-pleiotropic VAR_013325 p.Val417Ile Non-Disease rs2273697 0.1736 -
Q92887 non-pleiotropic VAR_020232 p.Val1188Glu Non-Disease rs17222723 0.0427 -
Q92887 non-pleiotropic VAR_000099 p.Arg768Trp Disease rs56199535 0.0002 Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887 non-pleiotropic VAR_020230 p.Ile1036Thr Non-Disease rs45441199 0.0028 -
Q92887 non-pleiotropic VAR_029117 p.Ile982Val Non-Disease rs17222554 0.0005 -
Q92887 non-pleiotropic VAR_010756 p.Gln1382Arg Disease - - Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887 non-pleiotropic VAR_020229 p.Leu849Arg Non-Disease rs17222617 0.0119 -
Q92887 non-pleiotropic VAR_029116 p.Phe562Leu Non-Disease rs17216233 - -
Q92887 non-pleiotropic VAR_070609 p.Arg1174His Non-Disease rs139188247 - -
Q92887 non-pleiotropic VAR_013328 p.Ile1173Phe Disease - - Dubin-Johnson syndrome (DJS) [MIM:237500]
Q92887 non-pleiotropic VAR_020226 p.Asp333Gly Non-Disease rs17222674 0.0 -
Q92887 non-pleiotropic VAR_020234 p.Cys1515Tyr Non-Disease rs8187710 0.0698 -
Q92887 non-pleiotropic VAR_013330 p.Ala1450Thr Non-Disease rs56296335 0.0002 -
Q92887 non-pleiotropic VAR_020233 p.Pro1291Leu Non-Disease rs17216317 0.0069 -
Q92887 non-pleiotropic VAR_029118 p.Asn1063Ser Non-Disease rs17222540 0.0005 -
Q92887 non-pleiotropic VAR_020227 p.Arg353His Non-Disease rs7080681 0.0129 -
Q92887 non-pleiotropic VAR_020228 p.Ile670Thr Non-Disease rs17222632 0.0046 -
Q92887 non-pleiotropic VAR_024360 p.Thr1273Ala Non-Disease rs8187699 0.0028 -
Q92887 non-pleiotropic VAR_047152 p.Tyr39Phe Non-Disease rs927344 0.0041 -
O95255 pleiotropic VAR_067854 p.Cys440Gly Disease rs72653766 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_011495 p.Arg1314Trp Disease rs63750759 0.0002 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067867 p.Arg724Lys Non-Disease rs58073789 0.0119 -
O95255 pleiotropic VAR_067849 p.Arg382Trp Disease rs72653761 0.0006 Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067871 p.Met751Lys Disease rs72653786 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013368 p.Lys281Glu Non-Disease rs4780606 - -
O95255 pleiotropic VAR_013382 p.Gly1203Asp Disease rs63750607 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013370 p.Thr364Arg Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067865 p.Gln698Pro Disease rs72653783 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067870 p.Ile742Val Non-Disease rs59593133 0.0197 -
O95255 pleiotropic VAR_067856 p.Leu495His Disease rs72653769 - Pseudoxanthoma elasticum (PXE) [MIM:264800]