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 186 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P22304 | non-pleiotropic | VAR_026947 | p.Leu314Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026959 | p.Pro480Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007345 | p.Cys184Phe | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026953 | p.Lys347Gln | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026940 | p.Leu259Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007320 | p.Pro86Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_008999 | p.Ala82Glu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007386 | p.Glu521Val | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007360 | p.Ser333Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007378 | p.Arg468Trp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026916 | p.Ser71Asn | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026918 | p.Ala82Val | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007324 | p.Arg88Cys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007377 | p.Arg468Gln | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007379 | p.Pro469His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007370 | p.Pro358Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007361 | p.Trp337Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007382 | p.Ile485Lys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007385 | p.Trp502Ser | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007369 | p.Ser349Ile | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026943 | p.Asp308Glu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026926 | p.Ser117Tyr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007341 | p.Ser143Phe | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007365 | p.Ala346Val | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007366 | p.Lys347Ile | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007318 | p.Ala79Glu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026935 | p.Ala205Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026936 | p.Lys227Met | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007340 | p.Lys135Arg | Disease | rs28937311 | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007333 | p.Thr118Ile | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007384 | p.Trp502Cys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007349 | p.Leu221Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007364 | p.Ala346Asp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026920 | p.Arg88Gly | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007354 | p.His229Tyr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007342 | p.His159Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007315 | p.Tyr54Asp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007331 | p.Tyr108Cys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007376 | p.Arg468Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026954 | p.Leu410Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007325 | p.Arg88His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026934 | p.Leu182Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026948 | p.Asp334Asn | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007313 | p.Asp45Asn | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026941 | p.Asn265Ile | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007336 | p.Glu125Val | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007375 | p.Arg468Gly | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026921 | p.Val89Phe | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007346 | p.Cys184Trp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026952 | p.Leu339Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |