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 77 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q16281 | non-pleiotropic | VAR_047585 | p.Phe380Ser | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047604 | p.Glu590Lys | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_010906 | p.Thr291Arg | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047592 | p.Asn471Ser | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047599 | p.Gly548Arg | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047579 | p.Arg277Cys | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047589 | p.Arg436Trp | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047574 | p.Glu228Lys | Disease | rs147415641 | 0.0012 | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047569 | p.Leu186Phe | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047575 | p.Phe249Ser | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047600 | p.Arg563His | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047605 | p.Glu593Lys | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047594 | p.Cys510Ser | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047601 | p.Thr565Met | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047596 | p.Gly516Glu | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047587 | p.Met406Thr | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047570 | p.Cys191Tyr | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047580 | p.Arg277His | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047595 | p.Gly513Glu | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047577 | p.Tyr263Asp | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_010902 | p.Thr153Met | Non-Disease | rs34314205 | 0.0069 | - |
Q16281 | non-pleiotropic | VAR_047573 | p.Thr224Arg | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_010904 | p.Arg283Gln | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047602 | p.Arg569His | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_010910 | p.Arg410Trp | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047598 | p.Gly525Asp | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q16281 | non-pleiotropic | VAR_047590 | p.Arg439Trp | Disease | - | - | Achromatopsia 2 (ACHM2) [MIM:216900] |
Q14028 | non-pleiotropic | VAR_059226 | p.Val535Ala | Non-Disease | rs12927214 | 0.0487 | - |
Q14028 | non-pleiotropic | VAR_059228 | p.Leu745Ile | Non-Disease | rs10459809 | 0.1061 | - |
Q14028 | non-pleiotropic | VAR_059229 | p.Lys911Arg | Non-Disease | rs2303785 | 0.0895 | - |
Q14028 | non-pleiotropic | VAR_059227 | p.Asn731Lys | Non-Disease | rs376270 | 0.362 | - |
Q14028 | non-pleiotropic | VAR_059225 | p.Leu479Ile | Non-Disease | rs2303783 | 0.0037 | - |
Q14028 | non-pleiotropic | VAR_059230 | p.Ala961Ser | Non-Disease | rs16942445 | 0.0289 | - |
Q14028 | non-pleiotropic | VAR_058691 | p.Arg100His | Non-Disease | rs13336595 | 0.2268 | - |
Q14028 | non-pleiotropic | VAR_060491 | p.Gly993Val | Disease | - | - | Retinitis pigmentosa 45 (RP45) [MIM:613767] |
Q9H8M5 | non-pleiotropic | VAR_065259 | p.Arg38Gln | Non-Disease | rs76057237 | 0.0349 | - |
Q9H8M5 | non-pleiotropic | VAR_065260 | p.Thr568Ile | Disease | - | - | Hypomagnesemia 6 (HOMG6) [MIM:613882] |
Q6P4Q7 | non-pleiotropic | VAR_058320 | p.Ser200Tyr | Disease | - | - | Jalili syndrome (JALIS) [MIM:217080] |
Q6P4Q7 | non-pleiotropic | VAR_058322 | p.Leu324Pro | Disease | - | - | Jalili syndrome (JALIS) [MIM:217080] |
Q6P4Q7 | non-pleiotropic | VAR_058319 | p.Ser196Pro | Disease | - | - | Jalili syndrome (JALIS) [MIM:217080] |
Q6P4Q7 | non-pleiotropic | VAR_058321 | p.Arg236Gln | Disease | - | - | Jalili syndrome (JALIS) [MIM:217080] |
Q6P4Q7 | non-pleiotropic | VAR_033365 | p.Gly126Arg | Non-Disease | rs17855817 | - | - |
Q86WW8 | non-pleiotropic | VAR_065499 | p.Ala53Pro | Disease | - | - | Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] |
Q13057 | non-pleiotropic | VAR_070975 | p.Arg499Cys | Disease | - | - | Neurodegeneration with brain iron accumulation 6 (NBIA6) [MIM:615643] |
Q13057 | non-pleiotropic | VAR_030299 | p.Ser55Tyr | Non-Disease | rs615942 | 0.4734 | - |
O43405 | non-pleiotropic | VAR_008535 | p.Ile109Asn | Disease | - | - | Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] |
O43405 | non-pleiotropic | VAR_050896 | p.Glu518Gly | Non-Disease | rs17097468 | 0.0119 | - |
O43405 | non-pleiotropic | VAR_011926 | p.Pro532Ser | Non-Disease | rs1801963 | - | - |
O43405 | non-pleiotropic | VAR_070034 | p.Cys162Tyr | Disease | - | - | Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] |
O43405 | non-pleiotropic | VAR_017175 | p.Ala119Thr | Disease | - | - | Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369] |