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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UniProtID
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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 275 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q99453 non-pleiotropic VAR_046901 p.Gln143Arg Disease - - Congenital central hypoventilation syndrome (CCHS) [MIM:209880]
O14832 non-pleiotropic VAR_050528 p.Gly215Ser Non-Disease rs7901902 0.0041 -
O14832 non-pleiotropic VAR_017485 p.Asp177Gly Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017484 p.Gln176Lys Disease rs28939672 - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017492 p.Phe257Ser Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_005525 p.Asn269His Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_018619 p.Asn83Tyr Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_005526 p.Arg275Trp Disease rs28939671 - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017493 p.Arg275Gln Disease rs28939674 - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017486 p.Trp193Arg Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017487 p.Glu197Gln Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_018631 p.His175Arg Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017483 p.Pro173Ser Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017490 p.His220Tyr Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017489 p.Gly204Ser Disease rs28939673 - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017488 p.Ile199Phe Disease - - Refsum disease (RD) [MIM:266500]
O14832 non-pleiotropic VAR_017491 p.Arg245Gln Disease rs62619919 0.0054 Refsum disease (RD) [MIM:266500]
Q8IUZ5 non-pleiotropic VAR_069544 p.Glu437Val Disease rs142181517 0.0008 Phosphohydroxylysinuria (PHLU) [MIM:615011]
Q8IUZ5 non-pleiotropic VAR_048233 p.His126Arg Non-Disease rs7707147 0.0519 -
Q8IUZ5 non-pleiotropic VAR_069543 p.Gly240Arg Disease rs201105857 - Phosphohydroxylysinuria (PHLU) [MIM:615011]
Q92508 non-pleiotropic VAR_069834 p.Arg2488Gln Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069829 p.Ala2020Val Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069827 p.Ala2003Asp Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069824 p.Arg808Gln Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069830 p.Thr2127Met Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069828 p.Ala2020Thr Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069822 p.Gly718Ser Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069825 p.Ser1117Leu Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069833 p.Arg2456His Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069826 p.Arg1358Pro Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069832 p.Met2225Arg Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q92508 non-pleiotropic VAR_069823 p.Gly782Ser Disease - - Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (DHS) [MIM:194380]
Q9H5I5 non-pleiotropic VAR_071039 p.Val1354Ile Non-Disease rs7234309 0.3439 -
Q9H5I5 non-pleiotropic VAR_033925 p.Val2463Ile Non-Disease rs3748428 0.1419 -
Q9H5I5 non-pleiotropic VAR_070938 p.Ile802Phe Disease - - Arthrogryposis, distal, 5 (DA5) [MIM:108145]
P37287 pleiotropic VAR_005532 p.Asn297Asp Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_005531 p.Ser155Phe Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_015440 p.His128Arg Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_071071 p.Arg119Trp Disease - - Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287 pleiotropic VAR_015439 p.Gly48Val Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_071070 p.Pro93Leu Disease - - Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287 pleiotropic VAR_071069 p.Arg77Leu Disease - - Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287 pleiotropic VAR_015442 p.Arg19Trp Disease rs34422225 0.0246 Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_015438 p.Gly48Asp Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_015441 p.Gly239Arg Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_071072 p.Ile206Phe Disease - - Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]
P37287 pleiotropic VAR_015436 p.Asp40His Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
P37287 pleiotropic VAR_015437 p.Gly48Ala Disease - - Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]
Q9Y2B2 non-pleiotropic VAR_068221 p.Leu167Pro Disease rs145303331 0.0006 Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation and ear anomalies syndrome (CHIME) [MIM:280000]
O95427 non-pleiotropic VAR_066402 p.Arg709Gln Disease - - Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]