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 22 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q2TAA5 non-pleiotropic VAR_068070 p.Tyr279Ser Disease - - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAA5 non-pleiotropic VAR_068072 p.Leu381Ser Disease - - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAA5 non-pleiotropic VAR_055902 p.Asn108Ser Non-Disease rs17480245 0.017 -
Q2TAA5 non-pleiotropic VAR_068073 p.Glu398Lys Disease - - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q2TAA5 non-pleiotropic VAR_068071 p.Gln318Pro Disease - - Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661]
Q9BV10 non-pleiotropic VAR_017904 p.Thr67Met Disease - - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10 non-pleiotropic VAR_017905 p.Phe142Val Disease rs28942090 - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10 non-pleiotropic VAR_024466 p.Ile393Val Non-Disease rs3922872 0.09 -
Q9BV10 non-pleiotropic VAR_038428 p.Gly101Arg Disease - - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10 non-pleiotropic VAR_017907 p.Leu158Pro Disease - - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9BV10 non-pleiotropic VAR_017906 p.Arg146Gln Disease - - Congenital disorder of glycosylation 1G (CDG1G) [MIM:607143]
Q9NP73 non-pleiotropic VAR_069412 p.Asn107Ser Non-Disease - - -
Q9NP73 non-pleiotropic VAR_069218 p.Lys94Glu Disease - - Congenital disorder of glycosylation 1S (CDG1S) [MIM:300884]
Q92685 non-pleiotropic VAR_037805 p.Ile107Val Non-Disease rs2233463 0.0064 -
Q92685 non-pleiotropic VAR_010306 p.Gly118Asp Disease rs28940588 - Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]
Q92685 non-pleiotropic VAR_037806 p.Arg171Gln Disease - - Congenital disorder of glycosylation 1D (CDG1D) [MIM:601110]
Q9Y672 non-pleiotropic VAR_055493 p.Lys226Asn Non-Disease rs35604168 0.014 -
Q9Y672 non-pleiotropic VAR_022512 p.Ser170Ile Disease - - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672 non-pleiotropic VAR_022514 p.Ser308Arg Disease - - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672 non-pleiotropic VAR_022511 p.Tyr131His Disease rs35383149 0.0134 Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672 non-pleiotropic VAR_013444 p.Ser478Pro Disease - - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672 non-pleiotropic VAR_022513 p.Gly227Glu Disease - - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672 non-pleiotropic VAR_013443 p.Ala333Val Disease - - Congenital disorder of glycosylation 1C (CDG1C) [MIM:603147]
Q9Y672 non-pleiotropic VAR_013442 p.Phe304Ser Non-Disease rs4630153 0.1695 -
Q9BVK2 non-pleiotropic VAR_023481 p.Asn222Ser Non-Disease rs665278 0.1524 -
Q9BVK2 non-pleiotropic VAR_023480 p.Thr47Pro Disease - - Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
Q9BVK2 non-pleiotropic VAR_023482 p.Gly275Asp Disease - - Congenital disorder of glycosylation 1H (CDG1H) [MIM:608104]
Q9BVK2 non-pleiotropic VAR_031596 p.Ile439Thr Non-Disease rs17825668 0.0129 -
Q9H6U8 non-pleiotropic VAR_049222 p.Ser255Leu Non-Disease rs17113312 - -
Q9H6U8 non-pleiotropic VAR_023412 p.Pro506Leu Non-Disease - - -
Q9H6U8 non-pleiotropic VAR_049223 p.Ile528Ser Non-Disease rs12575909 0.006 -
Q9H6U8 non-pleiotropic VAR_049221 p.Ala232Pro Non-Disease rs36111204 - -
Q9H6U8 non-pleiotropic VAR_023411 p.Val289Ile Non-Disease rs10502151 0.3265 -
Q9H6U8 non-pleiotropic VAR_023410 p.Tyr287Cys Disease - - Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]
Q9H6U8 non-pleiotropic VAR_023413 p.Glu523Lys Disease - - Congenital disorder of glycosylation 1L (CDG1L) [MIM:608776]
Q9UM73 non-pleiotropic VAR_041477 p.Ser90Leu Non-Disease rs34617074 - -
Q9UM73 non-pleiotropic VAR_031044 p.Asp1529Glu Non-Disease rs1881421 0.4348 -
Q9UM73 non-pleiotropic VAR_031043 p.Lys1491Arg Non-Disease rs1881420 0.3949 -
Q9UM73 non-pleiotropic VAR_041485 p.Thr1012Met Non-Disease rs35073634 0.0041 -
Q9UM73 non-pleiotropic VAR_063858 p.Phe1174Val Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063856 p.Phe1174Ile Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063862 p.Phe1245Val Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_041490 p.Glu1419Lys Non-Disease rs56181542 0.0005 -
Q9UM73 non-pleiotropic VAR_063861 p.Phe1245Cys Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063850 p.Asp1091Asn Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063860 p.Ala1234Thr Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_055987 p.Phe1376Ser Non-Disease rs17694720 - -
Q9UM73 non-pleiotropic VAR_061288 p.Leu868Gln Non-Disease rs55941323 0.0002 -
Q9UM73 non-pleiotropic VAR_063855 p.Phe1174Cys Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_041487 p.Ala1274Thr Non-Disease rs45502292 - -