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 21 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P51649 | non-pleiotropic | VAR_026203 | p.Asn255Ser | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026204 | p.Gly268Glu | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_026201 | p.Cys223Tyr | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
P51649 | non-pleiotropic | VAR_016758 | p.His180Tyr | Non-Disease | rs2760118 | 0.3067 | - |
P51649 | non-pleiotropic | VAR_026229 | p.Val406Ile | Non-Disease | - | - | - |
P51649 | non-pleiotropic | VAR_016759 | p.Pro182Leu | Non-Disease | rs3765310 | 0.045 | - |
P51649 | non-pleiotropic | VAR_026210 | p.Gly533Arg | Disease | - | - | Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980] |
Q02252 | non-pleiotropic | VAR_010244 | p.Gly446Arg | Disease | - | - | Methylmalonate semialdehyde dehydrogenase deficiency (MMSDHD) [MIM:614105] |
P49419 | non-pleiotropic | VAR_069184 | p.Gly202Val | Disease | - | - | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P49419 | non-pleiotropic | VAR_069186 | p.Asn301Ile | Disease | - | - | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P49419 | non-pleiotropic | VAR_069189 | p.Ser458Asn | Disease | - | - | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P49419 | non-pleiotropic | VAR_031718 | p.Ala199Val | Disease | - | - | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P49419 | non-pleiotropic | VAR_028202 | p.Thr412Ala | Non-Disease | rs2306618 | 0.0165 | - |
P49419 | non-pleiotropic | VAR_031719 | p.Glu427Gln | Disease | rs121912707 | 0.0002 | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P49419 | non-pleiotropic | VAR_069185 | p.Gly291Glu | Disease | - | - | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P49419 | non-pleiotropic | VAR_069188 | p.Val395Gly | Disease | - | - | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P49419 | non-pleiotropic | VAR_028203 | p.Lys439Gln | Non-Disease | rs12514417 | 0.0968 | - |
P49419 | non-pleiotropic | VAR_069187 | p.Arg335Gln | Disease | - | - | Pyridoxine-dependent epilepsy (PDE) [MIM:266100] |
P04075 | non-pleiotropic | VAR_044143 | p.Cys339Tyr | Disease | - | - | Glycogen storage disease 12 (GSD12) [MIM:611881] |
P04075 | non-pleiotropic | VAR_044142 | p.Glu207Lys | Disease | - | - | Glycogen storage disease 12 (GSD12) [MIM:611881] |
P04075 | non-pleiotropic | VAR_044144 | p.Gly347Ser | Disease | rs138824667 | 0.0008 | Glycogen storage disease 12 (GSD12) [MIM:611881] |
P04075 | non-pleiotropic | VAR_048220 | p.Gly142Val | Non-Disease | rs11553108 | - | - |
P04075 | non-pleiotropic | VAR_048219 | p.Glu82Gln | Non-Disease | rs11553107 | - | - |
P04075 | non-pleiotropic | VAR_000550 | p.Asp129Gly | Disease | - | - | Glycogen storage disease 12 (GSD12) [MIM:611881] |
P05062 | non-pleiotropic | VAR_020828 | p.Arg304Gln | Disease | rs145078268 | 0.0002 | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_058211 | p.Cys178Arg | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_000554 | p.Ala175Asp | Disease | rs76917243 | 0.0004 | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_020824 | p.Pro185Arg | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_000551 | p.Cys135Arg | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_020826 | p.Val222Phe | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_038430 | p.Ile268Asn | Non-Disease | rs10989495 | - | - |
P05062 | non-pleiotropic | VAR_038429 | p.Arg134Ser | Non-Disease | rs10123355 | 0.0032 | - |
P05062 | non-pleiotropic | VAR_020822 | p.Ile74Thr | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_000557 | p.Asn335Lys | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_000553 | p.Ala150Pro | Disease | rs1800546 | 0.0018 | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_000556 | p.Arg304Trp | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_000558 | p.Ala338Val | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_020827 | p.Leu229Pro | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_000555 | p.Leu257Pro | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
P05062 | non-pleiotropic | VAR_020825 | p.Glu207Gln | Non-Disease | rs3739721 | 0.0069 | - |
P05062 | non-pleiotropic | VAR_058212 | p.Leu284Pro | Disease | - | - | Hereditary fructose intolerance (HFI) [MIM:229600] |
Q9BT22 | non-pleiotropic | VAR_038425 | p.Ser267Asn | Non-Disease | rs17849848 | 0.0964 | - |
Q9BT22 | non-pleiotropic | VAR_038426 | p.Leu325Met | Non-Disease | rs17852920 | - | - |
Q9BT22 | non-pleiotropic | VAR_038427 | p.Gln455Arg | Non-Disease | rs17856919 | - | - |
Q9BT22 | non-pleiotropic | VAR_023364 | p.Ser150Arg | Disease | rs121908340 | 0.0002 | Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] |
Q9BT22 | non-pleiotropic | VAR_023367 | p.Asp429Glu | Non-Disease | rs9745522 | 0.1194 | - |
Q9BT22 | non-pleiotropic | VAR_023366 | p.Gln342Pro | Disease | - | - | Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] |
Q9BT22 | non-pleiotropic | VAR_023365 | p.Ser258Leu | Disease | rs28939378 | - | Congenital disorder of glycosylation 1K (CDG1K) [MIM:608540] |
Q9BT22 | non-pleiotropic | VAR_049350 | p.Arg438Trp | Non-Disease | rs16835020 | - | - |
Q2TAA5 | non-pleiotropic | VAR_064908 | p.Leu86Ser | Disease | - | - | Congenital disorder of glycosylation 1P (CDG1P) [MIM:613661] |