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 163 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P35557 pleiotropic VAR_003713 p.Leu309Pro Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003699 p.Val182Met Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003709 p.Glu279Gln Disease rs104894005 0.0004 Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010593 p.Ala259Thr Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003693 p.Glu70Lys Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003710 p.Gly299Arg Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010594 p.Gly261Glu Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_012351 p.Met210Lys Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010590 p.Thr209Met Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010598 p.Ala384Thr Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003698 p.Gly175Arg Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010586 p.Tyr108His Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010591 p.Met210Thr Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010597 p.Cys382Tyr Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010587 p.His137Arg Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003694 p.Gly80Ala Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_012354 p.Gly385Val Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_010583 p.Ala11Thr Non-Disease rs116093166 0.0055 -
P35557 pleiotropic VAR_010596 p.Val367Met Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003692 p.Asp4Asn Non-Disease - - -
P35557 pleiotropic VAR_003707 p.Trp257Arg Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003704 p.Gly227Cys Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_066615 p.Thr342Pro Non-Disease - - -
P35557 pleiotropic VAR_010585 p.Ala53Ser Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
P35557 pleiotropic VAR_003705 p.Thr228Met Disease - - Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
O75603 non-pleiotropic VAR_049131 p.Ala117Val Non-Disease rs35786951 0.0009 -
O75603 non-pleiotropic VAR_049130 p.Asp53Asn Non-Disease rs11963186 0.0009 -
O75603 non-pleiotropic VAR_065496 p.Tyr282Asp Non-Disease rs61734277 0.0051 -
O75603 non-pleiotropic VAR_049132 p.Gly203Ser Non-Disease rs7744163 0.0262 -
O75603 non-pleiotropic VAR_065498 p.Asn502His Disease - - Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
O75603 non-pleiotropic VAR_058044 p.Arg47Leu Disease - - Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
O75603 non-pleiotropic VAR_065495 p.Arg110Trp Disease - - Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
O75603 non-pleiotropic VAR_049133 p.Ile227Val Non-Disease rs35395043 0.0046 -
O75603 non-pleiotropic VAR_058045 p.Gly63Ser Disease - - Hypoparathyroidism, familial isolated (FIH) [MIM:146200]
P27539 pleiotropic VAR_065337 p.Pro312Thr Disease - - Tetralogy of Fallot (TOF) [MIM:187500]
P27539 pleiotropic VAR_065338 p.Ala318Thr Disease - - Transposition of the great arteries dextro-looped 3 (DTGA3) [MIM:613854]
P27539 pleiotropic VAR_065335 p.Cys267Tyr Disease - - Conotruncal heart malformations (CTHM) [MIM:217095]
P27539 pleiotropic VAR_065333 p.Gly162Asp Disease - - Tetralogy of Fallot (TOF) [MIM:187500]
P27539 pleiotropic VAR_028274 p.Ala118Val Non-Disease rs4808863 0.2837 -
P27539 pleiotropic VAR_065336 p.Ser309Pro Disease - - Tetralogy of Fallot (TOF) [MIM:187500]
Q9UK05 non-pleiotropic VAR_070690 p.Pro85Leu Disease - - Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
Q9UK05 non-pleiotropic VAR_070691 p.Arg333Trp Disease - - Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
Q9UK05 non-pleiotropic VAR_070689 p.Arg68Leu Disease - - Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506]
Q9NR23 pleiotropic VAR_065148 p.Arg266Cys Disease rs140926412 - Klippel-Feil syndrome 3, autosomal dominant (KFS3) [MIM:613702]
Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]
Q9NR23 pleiotropic VAR_052574 p.Gly213Arg Non-Disease rs12819884 0.2479 -
Q9NR23 pleiotropic VAR_065149 p.Arg274Trp Disease - - Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) [MIM:613703]
Q9NR23 pleiotropic VAR_065147 p.Arg195Gln Disease - - Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]
Q9NR23 pleiotropic VAR_065150 p.Leu305Pro Disease - - Microphthalmia, isolated, 7 (MCOP7) [MIM:613704]
Q9NR23 pleiotropic VAR_020064 p.Val328Leu Non-Disease rs2302516 0.0211 -
P43026 pleiotropic VAR_037980 p.Ser439Thr Disease - - Du Pan syndrome (DPS) [MIM:228900]