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 24 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q99217 | non-pleiotropic | VAR_037581 | p.Trp4Ser | Disease | - | - | Amelogenesis imperfecta 1E (AI1E) [MIM:301200] |
Q99217 | non-pleiotropic | VAR_037583 | p.Pro56Thr | Disease | - | - | Amelogenesis imperfecta 1E (AI1E) [MIM:301200] |
Q99217 | non-pleiotropic | VAR_037582 | p.Thr37Ile | Disease | - | - | Amelogenesis imperfecta 1E (AI1E) [MIM:301200] |
P03971 | non-pleiotropic | VAR_007490 | p.Arg194Cys | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_007491 | p.Gln325Arg | Non-Disease | rs140765565 | 0.0101 | - |
P03971 | non-pleiotropic | VAR_065100 | p.Val515Ala | Non-Disease | rs10417628 | 0.006 | - |
P03971 | non-pleiotropic | VAR_007489 | p.Gln185Glu | Non-Disease | - | - | - |
P03971 | non-pleiotropic | VAR_007488 | p.Tyr167Cys | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_007492 | p.Val477Ala | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_007486 | p.Gly101Val | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_007487 | p.Arg123Trp | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_007485 | p.Leu70Pro | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_007483 | p.Val12Gly | Disease | rs149082963 | 0.001 | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_007484 | p.Ser49Ile | Non-Disease | rs10407022 | 0.3269 | - |
P03971 | non-pleiotropic | VAR_031028 | p.Cys525Tyr | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
P03971 | non-pleiotropic | VAR_031027 | p.His506Gln | Disease | - | - | Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015532 | p.Arg504Cys | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015527 | p.His282Gln | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015531 | p.Asp491His | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015526 | p.Gly142Val | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015525 | p.Arg54Cys | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015529 | p.Asp426Gly | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015530 | p.Val458Ala | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_015528 | p.Arg406Gln | Disease | - | - | Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550] |
Q16671 | non-pleiotropic | VAR_069048 | p.Arg319His | Non-Disease | rs144236183 | - | - |
Q9BXJ7 | non-pleiotropic | VAR_015733 | p.Thr41Ile | Disease | rs28939377 | - | Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100] |
P23109 | non-pleiotropic | VAR_013272 | p.Arg458His | Disease | - | - | Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] |
P23109 | non-pleiotropic | VAR_013271 | p.Arg421Trp | Disease | rs35859650 | 0.0022 | Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511] |
P23109 | non-pleiotropic | VAR_013270 | p.Pro81Leu | Non-Disease | rs61752479 | 0.0546 | - |
P23109 | non-pleiotropic | VAR_048860 | p.Glu55Lys | Non-Disease | rs2273268 | 0.0002 | - |
Q01432 | non-pleiotropic | VAR_042608 | p.Ala320Val | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042607 | p.Val311Leu | Disease | rs117706710 | 0.0028 | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_009881 | p.Arg573Cys | Disease | rs3741040 | 0.0004 | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042611 | p.Arg402Cys | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042606 | p.Asn310Lys | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042615 | p.Gln712Pro | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042610 | p.Arg331Cys | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042612 | p.Trp450Arg | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042609 | p.Met324Thr | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042614 | p.Pro585Leu | Disease | - | - | Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] |
Q01432 | non-pleiotropic | VAR_042613 | p.Tyr455His | Non-Disease | rs36003153 | 0.0188 | - |
Q01432 | non-pleiotropic | VAR_033499 | p.Arg185Trp | Non-Disease | rs11042836 | 0.0349 | - |
P48728 | non-pleiotropic | VAR_007955 | p.Arg320His | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P48728 | non-pleiotropic | VAR_007953 | p.Gly269Asp | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P48728 | non-pleiotropic | VAR_016848 | p.Glu211Lys | Disease | rs116192290 | 0.0072 | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P48728 | non-pleiotropic | VAR_007954 | p.Asp276His | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P48728 | non-pleiotropic | VAR_007952 | p.Gly47Arg | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P48728 | non-pleiotropic | VAR_016847 | p.Asn145Ile | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P48728 | non-pleiotropic | VAR_007951 | p.His42Arg | Disease | - | - | Non-ketotic hyperglycinemia (NKH) [MIM:605899] |
P03950 | non-pleiotropic | VAR_044157 | p.His138Arg | Disease | - | - | Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] |