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 187 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P22304 | non-pleiotropic | VAR_007316 | p.Asn63Asp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_008998 | p.Ser71Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026932 | p.Asp148His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007314 | p.Arg48Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007348 | p.Asp198Gly | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026924 | p.Tyr108Ser | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007347 | p.Leu196Ser | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007329 | p.Gly94Asp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007359 | p.Gln293His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007335 | p.Pro120Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007317 | p.Ala68Glu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026955 | p.Cys422Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026945 | p.Thr309Ala | Disease | rs145807417 | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026962 | p.Glu521Lys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007330 | p.Leu102Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007344 | p.Pro160Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007362 | p.Gly340Asp | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026933 | p.Asn181Ile | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007358 | p.Asp269Val | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026939 | p.Pro231Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007371 | p.Leu403Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007323 | p.Ser87Asn | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026957 | p.Pro480Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026944 | p.Asp308Asn | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026958 | p.Pro480Gln | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007326 | p.Arg88Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007367 | p.Lys347Thr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007353 | p.Pro228Leu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007338 | p.Gly134Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007373 | p.Cys432Tyr | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007380 | p.Asp478Gly | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007334 | p.Pro120His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026917 | p.Leu73Phe | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026951 | p.Gly336Arg | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007356 | p.Pro266His | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_007363 | p.Trp345Cys | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_026950 | p.Gly336Glu | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
P22304 | non-pleiotropic | VAR_009003 | p.Gln465Pro | Disease | - | - | Mucopolysaccharidosis 2 (MPS2) [MIM:309900] |
Q9Y5U9 | non-pleiotropic | VAR_066569 | p.Val21Gly | Disease | - | - | Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231] |
Q9Y5U9 | non-pleiotropic | VAR_066570 | p.Leu78Pro | Disease | - | - | Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231] |
P38484 | non-pleiotropic | VAR_002718 | p.Gln64Arg | Non-Disease | rs9808753 | 0.2576 | - |
P38484 | non-pleiotropic | VAR_021384 | p.Lys182Glu | Non-Disease | rs17878711 | 0.0124 | - |
P38484 | non-pleiotropic | VAR_023281 | p.Thr168Asn | Disease | - | - | Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950] |
P38484 | non-pleiotropic | VAR_021383 | p.Glu147Lys | Non-Disease | rs17878639 | 0.001 | - |
P38484 | non-pleiotropic | VAR_020003 | p.Thr58Arg | Non-Disease | rs4986958 | 0.0326 | - |
Q9HBG6 | non-pleiotropic | VAR_063586 | p.Val502Gly | Disease | - | - | Cranioectodermal dysplasia 1 (CED1) [MIM:218330] |
Q9HBG6 | non-pleiotropic | VAR_063584 | p.Trp7Cys | Disease | - | - | Cranioectodermal dysplasia 1 (CED1) [MIM:218330] |
Q9HBG6 | non-pleiotropic | VAR_063585 | p.Ser322Phe | Disease | - | - | Cranioectodermal dysplasia 1 (CED1) [MIM:218330] |
Q96RY7 | non-pleiotropic | VAR_053396 | p.Asp165Ala | Non-Disease | rs35588860 | - | - |
Q96RY7 | non-pleiotropic | VAR_071008 | p.Cys1360Arg | Disease | - | - | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920] |