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 3 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O95255 pleiotropic VAR_013374 p.Arg518Gln Disease rs72653772 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067900 p.Asp1238His Disease rs63749796 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013371 p.Asn411Lys Disease rs9930886 0.2827 Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013379 p.Leu953His Non-Disease rs72657700 - -
O95255 pleiotropic VAR_067845 p.Ser317Arg Disease rs78678589 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067843 p.Gly129Glu Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067851 p.Lys392Asn Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067880 p.Ala820Pro Disease rs72653797 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067907 p.Glu1400Lys Disease rs63751241 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067901 p.Leu1335Pro Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067846 p.Leu355Arg Disease rs72653758 - Arterial calcification of infancy, generalized, 2 (GACI2) [MIM:614473]
Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013377 p.Leu673Pro Disease rs67470842 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013387 p.Ala1303Pro Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013376 p.His632Gln Non-Disease rs8058694 0.3577 -
O95255 pleiotropic VAR_059108 p.Met848Val Non-Disease rs6416668 0.0357 -
O95255 pleiotropic VAR_055477 p.Val665Ala Non-Disease rs4341770 - -
O95255 pleiotropic VAR_013391 p.Gln1347His Disease rs67720869 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013375 p.Phe568Ser Disease rs66864704 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067875 p.Asp777Asn Disease rs72653790 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067883 p.Leu946Ile Non-Disease rs61340537 0.0124 -
O95255 pleiotropic VAR_067903 p.Arg1339Leu Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067844 p.Ala158Val Non-Disease - - -
O95255 pleiotropic VAR_013366 p.Gly207Arg Non-Disease - - -
O95255 pleiotropic VAR_013381 p.Arg1138Pro Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_011490 p.Val614Ala Non-Disease rs12931472 0.3737 -
O95255 pleiotropic VAR_013380 p.Ser1121Trp Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067899 p.Arg1235Trp Disease rs63750402 0.0002 Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067884 p.Ala950Thr Disease rs72657689 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067904 p.Arg1339His Disease rs63750622 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013372 p.Ala455Pro Disease rs67996819 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067879 p.Thr811Met Disease rs72653796 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067848 p.Asn370Asp Disease rs72653760 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013393 p.Asp1361Asn Disease rs58695352 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013385 p.Thr1301Ile Disease rs63750494 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067861 p.Ala594Val Disease rs72653776 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067868 p.Arg724Leu Non-Disease - - -
O95255 pleiotropic VAR_067908 p.Gln1406Lys Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_011491 p.Arg1114Pro Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067881 p.Arg881Ser Disease rs72653800 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067902 p.Leu1335Gln Disease rs63750414 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_011493 p.Arg1138Trp Disease rs28939701 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013384 p.Val1298Phe Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013394 p.Ile1424Thr Disease rs63750295 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067841 p.Ala78Thr Non-Disease - - -
O95255 pleiotropic VAR_067855 p.Leu463His Disease rs72653767 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_011492 p.Arg1138Gln Disease rs60791294 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067891 p.Ser1121Leu Disease - - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_013383 p.Trp1241Cys Non-Disease rs72657701 - -
O95255 pleiotropic VAR_067866 p.Glu699Asp Disease rs72653784 - Pseudoxanthoma elasticum (PXE) [MIM:264800]
O95255 pleiotropic VAR_067906 p.Arg1357Trp Disease rs63750428 0.0002 Pseudoxanthoma elasticum (PXE) [MIM:264800]