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 74 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9GZX3 | non-pleiotropic | VAR_021467 | p.Glu274Lys | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021418 | p.Leu22Arg | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021460 | p.Arg211Gln | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021452 | p.Arg202Ser | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_033735 | p.Asn369Asp | Non-Disease | rs35036798 | - | - |
Q9GZX3 | non-pleiotropic | VAR_021461 | p.Arg211Trp | Disease | rs202175444 | 0.0002 | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021417 | p.Leu15Pro | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021466 | p.Tyr268Cys | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021459 | p.Ser210Phe | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021454 | p.Pro204Gln | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021435 | p.Cys102Gly | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021465 | p.His249Pro | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021464 | p.Asp221Tyr | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021430 | p.Pro72Ser | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021441 | p.Gln122Pro | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021421 | p.Arg50Cys | Disease | rs28937877 | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021431 | p.Val76Met | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021432 | p.Arg93His | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021450 | p.Val198Glu | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021434 | p.Ser98Trp | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021463 | p.Asp221Glu | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021448 | p.Lys174Arg | Disease | rs28937878 | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021423 | p.Gly52Asp | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021436 | p.Cys102Tyr | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021420 | p.His42Tyr | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021428 | p.Tyr68His | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021419 | p.Pro31Ser | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021425 | p.Leu59Pro | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021429 | p.Met70Leu | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021422 | p.Ser51Leu | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021440 | p.Phe121Leu | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021433 | p.Arg97Pro | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q9GZX3 | non-pleiotropic | VAR_021457 | p.Ala206Thr | Disease | - | - | Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800] |
Q86X52 | non-pleiotropic | VAR_065822 | p.Pro539Arg | Disease | - | - | Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282] |
Q86X52 | non-pleiotropic | VAR_021173 | p.Pro359Ser | Non-Disease | rs3743193 | 0.129 | - |
Q86X52 | non-pleiotropic | VAR_028009 | p.Gln652His | Non-Disease | rs4426333 | - | - |
O75838 | pleiotropic | VAR_069089 | p.Ile123Thr | Disease | - | - | Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] |
O75838 | pleiotropic | VAR_069087 | p.Phe91Ser | Disease | - | - | Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] |
O75838 | pleiotropic | VAR_069086 | p.Glu64Asp | Disease | - | - | Usher syndrome 1J (USH1J) [MIM:614869] |
O75838 | pleiotropic | VAR_069088 | p.Cys99Trp | Disease | - | - | Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439] |
P33076 | non-pleiotropic | VAR_029270 | p.Leu45Val | Non-Disease | rs2229317 | 0.1501 | - |
P33076 | non-pleiotropic | VAR_057711 | p.Val782Ala | Non-Disease | rs13336804 | 0.051 | - |
P33076 | non-pleiotropic | VAR_060104 | p.Ser781Leu | Non-Disease | rs13330686 | 0.051 | - |
P33076 | non-pleiotropic | VAR_005128 | p.Gly500Ala | Non-Disease | rs4774 | 0.2622 | - |
P33076 | non-pleiotropic | VAR_015553 | p.Phe962Ser | Disease | - | - | Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] |
P33076 | non-pleiotropic | VAR_015551 | p.Leu469Pro | Disease | - | - | Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] |
P33076 | non-pleiotropic | VAR_047908 | p.Gln900Arg | Non-Disease | rs7197779 | 0.0537 | - |
P33076 | non-pleiotropic | VAR_047907 | p.Arg174Gly | Non-Disease | rs8046121 | 0.0106 | - |
P33076 | non-pleiotropic | VAR_015552 | p.Ala658Gly | Non-Disease | rs2229319 | 0.011 | - |
Q969X6 | non-pleiotropic | VAR_053388 | p.Arg438His | Non-Disease | rs8056684 | 0.0078 | - |