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 18 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P21549 | non-pleiotropic | VAR_060548 | p.Gly82Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_010971 | p.Gly116Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060557 | p.Met195Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060556 | p.Gly190Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060553 | p.Ser158Leu | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_010969 | p.Gly41Val | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_000590 | p.Gly170Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_000587 | p.Pro11Leu | Non-Disease | rs34116584 | 0.1084 | - |
P21549 | non-pleiotropic | VAR_008881 | p.Ile244Thr | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_010972 | p.Gly156Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060567 | p.Arg289Cys | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060569 | p.Leu298Pro | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_000588 | p.Gly41Arg | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_008878 | p.Gly82Glu | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_048237 | p.Ala295Thr | Non-Disease | rs13408961 | 0.0289 | - |
P21549 | non-pleiotropic | VAR_060571 | p.Val336Asp | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_000592 | p.Ser205Pro | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060561 | p.Asp243His | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_000589 | p.Phe152Ile | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P21549 | non-pleiotropic | VAR_060552 | p.Leu153Val | Disease | - | - | Hyperoxaluria primary 1 (HP1) [MIM:259900] |
P23526 | non-pleiotropic | VAR_058590 | p.Ala89Val | Disease | - | - | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] |
P23526 | non-pleiotropic | VAR_058588 | p.Arg49Cys | Disease | - | - | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] |
P23526 | non-pleiotropic | VAR_058591 | p.Tyr143Cys | Disease | - | - | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] |
P23526 | non-pleiotropic | VAR_006934 | p.Asp86Asn | Non-Disease | - | - | - |
P23526 | non-pleiotropic | VAR_052286 | p.Arg38Trp | Non-Disease | rs13043752 | 0.0069 | - |
P23526 | non-pleiotropic | VAR_058589 | p.Asp86Gly | Disease | - | - | Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752] |
Q8N157 | non-pleiotropic | VAR_068171 | p.Glu1086Gly | Disease | rs148000791 | 0.0078 | Joubert syndrome 3 (JBTS3) [MIM:608629] |
Q8N157 | non-pleiotropic | VAR_037897 | p.Thr856Ser | Non-Disease | rs199736888 | 0.0005 | - |
Q8N157 | non-pleiotropic | VAR_037894 | p.Arg723Gln | Disease | - | - | Joubert syndrome 3 (JBTS3) [MIM:608629] |
Q8N157 | non-pleiotropic | VAR_037899 | p.Gln1018Pro | Non-Disease | rs6940875 | 0.0152 | - |
Q8N157 | non-pleiotropic | VAR_037892 | p.Ile49Asn | Non-Disease | - | - | - |
Q8N157 | non-pleiotropic | VAR_037896 | p.Arg830Trp | Non-Disease | rs13312995 | 0.0142 | - |
Q8N157 | non-pleiotropic | VAR_037900 | p.Ser1123Phe | Non-Disease | rs117447608 | 0.0023 | - |
Q8N157 | non-pleiotropic | VAR_037901 | p.Pro1140Ser | Non-Disease | - | - | - |
Q8N157 | non-pleiotropic | VAR_037895 | p.Ser761Leu | Non-Disease | - | - | - |
Q8N157 | non-pleiotropic | VAR_023391 | p.Val443Asp | Disease | - | - | Joubert syndrome 3 (JBTS3) [MIM:608629] |
Q8N157 | non-pleiotropic | VAR_037898 | p.Tyr933Cys | Non-Disease | rs41288013 | 0.0023 | - |
Q8N157 | non-pleiotropic | VAR_037893 | p.Arg548His | Non-Disease | rs35433555 | 0.0092 | - |
Q9GZX7 | non-pleiotropic | VAR_013775 | p.Trp80Arg | Disease | - | - | Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] |
Q9GZX7 | non-pleiotropic | VAR_013774 | p.Arg24Trp | Disease | - | - | Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] |
Q9GZX7 | non-pleiotropic | VAR_013778 | p.Phe151Ser | Disease | - | - | Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] |
Q9GZX7 | non-pleiotropic | VAR_014091 | p.Arg25Cys | Non-Disease | - | - | - |
Q9GZX7 | non-pleiotropic | VAR_013777 | p.Met139Val | Disease | - | - | Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] |
Q9GZX7 | non-pleiotropic | VAR_013776 | p.Leu106Pro | Disease | - | - | Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258] |
O43918 | non-pleiotropic | VAR_013719 | p.Tyr90Cys | Disease | rs179363883 | - | Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] |
O43918 | non-pleiotropic | VAR_013721 | p.Val301Met | Disease | rs150634562 | 0.0004 | Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] |
O43918 | non-pleiotropic | VAR_013723 | p.Cys311Tyr | Disease | - | - | Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] |
O43918 | non-pleiotropic | VAR_026483 | p.Phe77Ser | Disease | rs179363887 | - | Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] |
O43918 | non-pleiotropic | VAR_005005 | p.Lys83Glu | Disease | - | - | Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] |
O43918 | non-pleiotropic | VAR_026485 | p.Pro326Leu | Disease | rs179363888 | - | Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] |