Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
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] |