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 169 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9NTQ9 | non-pleiotropic | VAR_015089 | p.Arg124Gln | Non-Disease | rs140996335 | 0.0005 | - |
Q9NTQ9 | non-pleiotropic | VAR_015088 | p.Arg103Cys | Non-Disease | rs9426009 | 0.0161 | - |
Q9NTQ9 | non-pleiotropic | VAR_010206 | p.Phe137Leu | Disease | - | - | Erythrokeratodermia variabilis (EKV) [MIM:133200] |
Q9NTQ9 | non-pleiotropic | VAR_015092 | p.Glu204Ala | Non-Disease | rs3738346 | 0.101 | - |
O95452 | pleiotropic | VAR_048825 | p.Asn159Ser | Non-Disease | rs35277762 | 0.0022 | - |
O95452 | pleiotropic | VAR_022424 | p.Ser139Gly | Non-Disease | - | - | - |
O95452 | pleiotropic | VAR_022425 | p.Ser199Thr | Non-Disease | rs111033338 | 0.0028 | - |
O95452 | pleiotropic | VAR_015697 | p.Ala88Val | Disease | rs28937872 | - | Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] |
O95452 | pleiotropic | VAR_015696 | p.Gly11Arg | Disease | - | - | Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] |
O95452 | pleiotropic | VAR_008711 | p.Thr5Met | Disease | - | - | Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643] |
O95452 | pleiotropic | VAR_016838 | p.Val37Glu | Disease | - | - | Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500] |
Q5T442 | pleiotropic | VAR_023756 | p.Met286Thr | Disease | - | - | Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] |
Q5T442 | pleiotropic | VAR_063172 | p.Ile36Met | Disease | - | - | Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206] |
Q5T442 | pleiotropic | VAR_023755 | p.Tyr272Asp | Disease | - | - | Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] |
Q5T442 | pleiotropic | VAR_063877 | p.Ser48Leu | Disease | - | - | Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480] |
Q5T442 | pleiotropic | VAR_063880 | p.Arg260Cys | Disease | - | - | Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480] |
Q5T442 | pleiotropic | VAR_023754 | p.Pro90Ser | Disease | - | - | Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804] |
P32189 | non-pleiotropic | VAR_001374 | p.Ser185Asn | Non-Disease | - | - | - |
P32189 | non-pleiotropic | VAR_015433 | p.Asn294Asp | Disease | - | - | Glycerol kinase deficiency (GKD) [MIM:307030] |
P32189 | non-pleiotropic | VAR_068980 | p.Asn79Lys | Non-Disease | rs17857267 | - | - |
P32189 | non-pleiotropic | VAR_001377 | p.Asp446Val | Disease | - | - | Glycerol kinase deficiency (GKD) [MIM:307030] |
P32189 | non-pleiotropic | VAR_068981 | p.Pro131Thr | Non-Disease | rs17854203 | - | - |
P32189 | non-pleiotropic | VAR_001376 | p.Ala382Thr | Non-Disease | - | - | - |
P32189 | non-pleiotropic | VAR_010138 | p.Trp509Arg | Disease | - | - | Glycerol kinase deficiency (GKD) [MIM:307030] |
P32189 | non-pleiotropic | VAR_001375 | p.Asn232His | Non-Disease | - | - | - |
P16278 | pleiotropic | VAR_062342 | p.Lys73Glu | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_062359 | p.Tyr333His | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_013543 | p.Asp214Tyr | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_013553 | p.Gly494Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_013546 | p.Asn266Ser | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_008686 | p.Glu632Gly | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_062341 | p.Arg68Gln | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_062344 | p.Met132Thr | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008674 | p.Tyr83His | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_003334 | p.Tyr316Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_038346 | p.Gly272Asp | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_026130 | p.Arg68Trp | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_013544 | p.Val216Ala | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062367 | p.Arg442Gln | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_003330 | p.Ile51Thr | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_003332 | p.Arg201Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_013554 | p.Thr500Ala | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_037943 | p.Asp491Tyr | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008676 | p.Arg208Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_026129 | p.Arg59Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008681 | p.Ser532Gly | Non-Disease | - | 0.045 | - |
P16278 | pleiotropic | VAR_062368 | p.Tyr444Cys | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_037939 | p.Leu155Arg | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_062363 | p.Thr420Lys | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_026132 | p.Thr239Met | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |