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 20 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P54886 | non-pleiotropic | VAR_038482 | p.Arg84Gln | Disease | - | - | Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] |
P54886 | non-pleiotropic | VAR_051792 | p.Thr299Ile | Non-Disease | rs2275272 | 0.0849 | - |
P54886 | non-pleiotropic | VAR_058006 | p.His784Tyr | Disease | - | - | Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150] |
P54886 | non-pleiotropic | VAR_051793 | p.Ser372Tyr | Non-Disease | rs3765571 | 0.0211 | - |
P47895 | non-pleiotropic | VAR_069325 | p.Ala493Pro | Disease | - | - | Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] |
P47895 | non-pleiotropic | VAR_069324 | p.Ile369Phe | Disease | - | - | Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] |
P47895 | non-pleiotropic | VAR_069323 | p.Ala145Val | Disease | - | - | Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] |
P47895 | non-pleiotropic | VAR_069322 | p.Arg89Cys | Disease | - | - | Microphthalmia, isolated, 8 (MCOP8) [MIM:615113] |
P47895 | non-pleiotropic | VAR_019706 | p.Met386Val | Non-Disease | rs3803430 | 0.1111 | - |
P51648 | non-pleiotropic | VAR_002250 | p.Cys214Tyr | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017517 | p.Arg228Cys | Disease | rs72547566 | 0.0002 | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_002251 | p.Cys226Trp | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017513 | p.Pro121Leu | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017524 | p.His411Tyr | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017525 | p.Ser415Asn | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017526 | p.Phe419Ser | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017522 | p.Asn386Ser | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_002249 | p.Leu106Arg | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017527 | p.Arg423His | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017518 | p.Cys237Tyr | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017528 | p.Lys447Glu | Disease | rs67939114 | 0.0002 | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017514 | p.Thr184Met | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_002256 | p.Gly412Arg | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_002254 | p.Pro315Ser | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017523 | p.Gly406Arg | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017510 | p.Ile45Phe | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017520 | p.Tyr279Asn | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017515 | p.Thr184Arg | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017516 | p.Gly185Ala | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017511 | p.Val64Asp | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_002255 | p.Ser365Leu | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_002252 | p.Asp245Asn | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017512 | p.Pro114Leu | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017519 | p.Lys266Asn | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P51648 | non-pleiotropic | VAR_017521 | p.Met328Ile | Disease | - | - | Sjoegren-Larsson syndrome (SLS) [MIM:270200] |
P30038 | non-pleiotropic | VAR_048903 | p.Thr473Ala | Non-Disease | rs6695033 | 0.0638 | - |
P30038 | non-pleiotropic | VAR_002260 | p.Ser352Leu | Disease | - | - | Hyperprolinemia 2 (HP-2) [MIM:239510] |
P30038 | non-pleiotropic | VAR_029337 | p.Val470Ile | Non-Disease | rs2230709 | 0.0643 | - |
P30038 | non-pleiotropic | VAR_002259 | p.Pro16Leu | Non-Disease | rs146450609 | 0.0239 | - |
P51649 | non-pleiotropic | VAR_026199 | p.Cys93Phe | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026202 | p.Thr233Met | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026228 | p.Ala237Ser | Non-Disease | rs62621664 | 0.0083 | - |
P51649 | non-pleiotropic | VAR_026206 | p.Pro382Leu | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026207 | p.Pro382Gln | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026227 | p.Gly36Arg | Non-Disease | rs4646832 | 0.0464 | - |
P51649 | non-pleiotropic | VAR_026208 | p.Gly409Asp | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026200 | p.Gly176Arg | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026205 | p.Asn335Lys | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_069047 | p.Asn372Ser | Non-Disease | - | - | - |
P51649 | non-pleiotropic | VAR_026209 | p.Val487Glu | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |