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 185 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9UPZ9 | non-pleiotropic | VAR_053931 | p.Pro98Leu | Non-Disease | rs1493105 | - | - |
Q9UPZ9 | non-pleiotropic | VAR_042003 | p.Thr471Lys | Non-Disease | rs56164633 | - | - |
Q9UPZ9 | non-pleiotropic | VAR_042005 | p.Ala615Thr | Non-Disease | rs55932059 | - | - |
Q9UPZ9 | non-pleiotropic | VAR_057994 | p.Arg272Gln | Disease | - | - | Endocrine-cerebroosteodysplasia (ECO) [MIM:612651] |
Q9UPZ9 | non-pleiotropic | VAR_042004 | p.Arg476Gln | Non-Disease | rs55895113 | - | - |
Q9UPZ9 | non-pleiotropic | VAR_042002 | p.Val320Ile | Non-Disease | rs33936662 | 0.0459 | - |
P48735 | non-pleiotropic | VAR_065174 | p.Arg140Gly | Disease | - | - | D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] |
P48735 | non-pleiotropic | VAR_065175 | p.Arg140Gln | Disease | - | - | D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] |
O43837 | non-pleiotropic | VAR_054851 | p.Leu132Pro | Disease | - | - | Retinitis pigmentosa 46 (RP46) [MIM:612572] |
O43837 | non-pleiotropic | VAR_022660 | p.Ala3Val | Non-Disease | rs3178817 | - | - |
O43837 | non-pleiotropic | VAR_049781 | p.Gln166His | Non-Disease | rs11542741 | - | - |
O43837 | non-pleiotropic | VAR_056005 | p.Thr360Ala | Non-Disease | rs8296 | 0.0597 | - |
P22304 | non-pleiotropic | VAR_026930 | p.His138Asp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007339 | p.Lys135Asn | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007332 | p.Asn115Tyr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_008136 | p.Ser491Phe | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007372 | p.Cys422Gly | Disease | rs28937310 | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026929 | p.Gln121Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007357 | p.Pro266Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007368 | p.Tyr348His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007355 | p.Asp252Asn | Disease | rs146458524 | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026937 | p.Pro228Thr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_008134 | p.Glu341Lys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026928 | p.Gln121His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007322 | p.Pro86Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007328 | p.Leu92Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007321 | p.Pro86Gln | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007352 | p.Lys227Gln | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026961 | p.Tyr490Ser | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_009002 | p.Asp334Gly | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007387 | p.Tyr523Cys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026956 | p.Pro467Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_008135 | p.His342Tyr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026931 | p.Gly140Val | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007350 | p.Gly224Glu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026949 | p.His335Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026938 | p.His229Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_009001 | p.Tyr264Asn | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026942 | p.Ser299Ile | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026922 | p.Arg95Gly | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007374 | p.Glu434Lys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007381 | p.Asp478Tyr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007337 | p.Ser132Trp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007327 | p.Arg88Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007319 | p.Ala85Thr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026915 | p.Leu41Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007383 | p.Ile485Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026923 | p.Arg95Thr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007351 | p.Tyr225Asp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026919 | p.Ala85Ser | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |