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 4 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O95255 pleiotropic VAR_067877 p.Arg807Trp Disease rs72653793 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067893 p.Gly1133Ala Disease rs63750473 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067897 p.Arg1221His Disease rs63751001 - Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255 pleiotropic VAR_067882 p.Thr944Ile Disease rs72653801 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_060988 p.Leu1097Ile Non-Disease rs60707953 0.0064 -
O95255 pleiotropic VAR_013369 p.Ile319Val Non-Disease rs72657699 - -
O95255 pleiotropic VAR_067898 p.Leu1226Ile Disease rs63750125 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067852 p.Ser398Gly Disease rs72653764 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067892 p.Thr1130Met Disease rs63750459 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013386 p.Gly1302Arg Disease rs63749856 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067895 p.Arg1164Gln Disease rs63750457 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013392 p.Gly1354Arg Disease rs63750018 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067860 p.Ser590Phe Disease - - Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
O95255 pleiotropic VAR_013367 p.Arg265Gly Non-Disease rs78629019 - -
O95255 pleiotropic VAR_067894 p.Ala1139Thr Disease rs63750146 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013390 p.Arg1339Cys Disease rs28939702 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013365 p.Arg64Trp Non-Disease - - -
O95255 pleiotropic VAR_067842 p.Glu125Lys Non-Disease rs3853814 - -
O95255 pleiotropic VAR_067909 p.Arg1459Cys Disease rs72547524 0.0002 Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067858 p.Ser535Pro Disease rs72653773 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067872 p.Gly755Arg Disease rs72653787 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013373 p.Asn497Lys Non-Disease rs72653770 - -
O95255 pleiotropic VAR_067853 p.Val417Met Non-Disease - - -
O95255 pleiotropic VAR_067857 p.Val514Ile Non-Disease rs59157279 0.0005 -
O95255 pleiotropic VAR_067864 p.Leu677Pro Disease rs72653782 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067873 p.Arg760Trp Disease rs72653788 0.0002 Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067863 p.Gly663Cys Disease rs72653780 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013378 p.Arg765Gln Disease rs67561842 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067859 p.Phe551Ser Disease rs72653774 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_011494 p.Arg1268Gln Non-Disease rs2238472 0.1938 -
O95255 pleiotropic VAR_067874 p.Ala766Asp Disease rs72653789 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013389 p.Gly1321Ser Disease rs63749823 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067905 p.Pro1346Ser Disease rs63751112 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067862 p.Arg600Cys Disease rs72653777 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067896 p.Arg1221Cys Disease rs63751215 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067889 p.Arg1064Trp Non-Disease rs41278174 0.011 -
O95255 pleiotropic VAR_067890 p.Arg1114Cys Disease rs63749794 0.0002 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013388 p.Arg1314Gln Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067888 p.Asp1056Glu Disease rs72657694 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067878 p.Val810Met Disease rs72653795 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067869 p.Leu726Pro Disease rs72653785 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013364 p.Gly61Asp Non-Disease - - -
O95255 pleiotropic VAR_067876 p.Arg807Gln Disease rs72653794 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067885 p.Gly992Arg Disease rs72657692 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067850 p.Arg391Gly Disease rs72653762 0.0028 Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
Pseudoxanthoma elasticum (PXE) [MIM:264800]
Q09428 pleiotropic VAR_008652 p.Ala1369Ser Non-Disease rs757110 0.2856 -
Q09428 pleiotropic VAR_031385 p.Asp1471Asn Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_015008 p.Arg1436Gln Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_031363 p.Leu508Pro Disease - - Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450]
Q09428 pleiotropic VAR_029777 p.Leu104Val Non-Disease rs10400391 - -