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 171 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P16278 | pleiotropic | VAR_062355 | p.Leu264Ser | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_013550 | p.Gln408Pro | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_062369 | p.Gly494Ser | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_037946 | p.Arg590Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_026131 | p.Asp151Tyr | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062343 | p.Tyr83Cys | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_037937 | p.Gly134Val | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P23378 | non-pleiotropic | VAR_016851 | p.Arg515Ser | Disease | rs121964976 | 0.0174 | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P23378 | non-pleiotropic | VAR_004979 | p.Ser564Ile | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P23378 | non-pleiotropic | VAR_016849 | p.Ala283Pro | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P10070 | non-pleiotropic | VAR_032976 | p.Pro932Ser | Disease | - | - | Holoprosencephaly 9 (HPE9) [MIM:610829] |
P10070 | non-pleiotropic | VAR_047306 | p.Ala1156Ser | Non-Disease | rs3738880 | 0.4399 | - |
P10070 | non-pleiotropic | VAR_032975 | p.Arg479Gly | Disease | - | - | Holoprosencephaly 9 (HPE9) [MIM:610829] |
P10070 | non-pleiotropic | VAR_032977 | p.Met1444Ile | Disease | rs146467786 | 0.007 | Holoprosencephaly 9 (HPE9) [MIM:610829] |
P10070 | non-pleiotropic | VAR_047307 | p.Asp1306Asn | Non-Disease | rs12711538 | 0.4068 | - |
P10070 | non-pleiotropic | VAR_032978 | p.Pro1554Leu | Disease | - | - | Holoprosencephaly 9 (HPE9) [MIM:610829] |
P10070 | non-pleiotropic | VAR_047304 | p.Ser579Ile | Non-Disease | rs12618388 | - | - |
P10070 | non-pleiotropic | VAR_047303 | p.Asp449His | Non-Disease | rs13427953 | - | - |
P10070 | non-pleiotropic | VAR_047305 | p.Pro625Ser | Non-Disease | rs3099537 | - | - |
P10071 | pleiotropic | VAR_028278 | p.Pro998Leu | Non-Disease | rs929387 | 0.4206 | - |
P10071 | pleiotropic | VAR_021482 | p.Ala934Pro | Disease | rs28933372 | - | Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] |
P10071 | pleiotropic | VAR_010057 | p.Arg1537Cys | Non-Disease | rs35364414 | 0.0193 | - |
P10071 | pleiotropic | VAR_021481 | p.Arg625Trp | Disease | - | - | Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] |
P10071 | pleiotropic | VAR_010055 | p.Pro707Ser | Disease | - | - | Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] |
P10071 | pleiotropic | VAR_009876 | p.Gly727Arg | Disease | rs121917710 | 0.0026 | Polydactyly, postaxial A1 (PAPA1) [MIM:174200] Polydactyly, postaxial B (PAPB) [MIM:174200] |
P10071 | pleiotropic | VAR_010054 | p.Cys520Tyr | Disease | - | - | Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] |
P10071 | pleiotropic | VAR_034865 | p.Gly1336Glu | Non-Disease | rs35280470 | 0.0188 | - |
P10071 | pleiotropic | VAR_010053 | p.Cys515Gly | Disease | - | - | Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] |
P10071 | pleiotropic | VAR_028276 | p.Thr183Ala | Non-Disease | rs846266 | 0.3747 | - |
P10071 | pleiotropic | VAR_010052 | p.Asp440Glu | Non-Disease | - | - | - |
P10071 | pleiotropic | VAR_010056 | p.Ile808Met | Disease | rs62622373 | 0.0006 | Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700] |
P23415 | non-pleiotropic | VAR_010114 | p.Arg428His | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_010113 | p.Arg280His | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_000296 | p.Ile272Asn | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_000299 | p.Arg299Gln | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_000301 | p.Tyr307Cys | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_000300 | p.Lys304Glu | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_000297 | p.Gln294His | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_000298 | p.Arg299Leu | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P23415 | non-pleiotropic | VAR_010112 | p.Pro278Thr | Disease | - | - | Hyperekplexia 1 (HKPX1) [MIM:149400] |
P48167 | non-pleiotropic | VAR_068246 | p.Met199Arg | Disease | - | - | Hyperekplexia 2 (HKPX2) [MIM:614619] |
P48167 | non-pleiotropic | VAR_035070 | p.Gly251Asp | Disease | - | - | Hyperekplexia 2 (HKPX2) [MIM:614619] |
P00367 | non-pleiotropic | VAR_016760 | p.Ser270Cys | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_016762 | p.Arg318Thr | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_009271 | p.Glu349Ala | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_008666 | p.Ser498Leu | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_008670 | p.His507Tyr | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_008667 | p.Gly499Asp | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_016764 | p.Arg322Cys | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_009270 | p.Arg318Lys | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |