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 159 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P07902 | non-pleiotropic | VAR_002570 | p.His132Tyr | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002610 | p.Leu289Arg | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_068531 | p.Gln9His | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_068534 | p.Arg33His | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002548 | p.Asp28Tyr | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_068824 | p.Tyr89His | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002627 | p.Arg333Trp | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_008045 | p.Arg204Pro | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_008048 | p.Phe294Tyr | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002551 | p.Val44Leu | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_068553 | p.Leu327Pro | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_068536 | p.Ser112Arg | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002567 | p.Val125Ala | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_008047 | p.Arg272Gly | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002600 | p.Leu226Pro | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002595 | p.Glu203Lys | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002605 | p.Arg258Cys | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002609 | p.Lys285Asn | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002556 | p.Arg67Cys | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_068544 | p.Arg201Cys | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002561 | p.Asp113Asn | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002603 | p.Tyr251Cys | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002626 | p.Arg333Gln | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_002625 | p.Arg333Gly | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
P07902 | non-pleiotropic | VAR_068545 | p.Glu220Lys | Disease | - | - | Galactosemia (GALCT) [MIM:230400] |
Q14353 | non-pleiotropic | VAR_058106 | p.Cys169Tyr | Disease | - | - | Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] |
Q14353 | non-pleiotropic | VAR_058102 | p.Trp20Ser | Disease | - | - | Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] |
Q14353 | non-pleiotropic | VAR_025723 | p.Thr209Met | Non-Disease | rs17851582 | 0.0381 | - |
Q14353 | non-pleiotropic | VAR_058103 | p.Met50Leu | Disease | - | - | Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] |
Q14353 | non-pleiotropic | VAR_058104 | p.His51Pro | Disease | - | - | Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] |
Q14353 | non-pleiotropic | VAR_058105 | p.Ala54Pro | Disease | - | - | Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736] |
Q9H2C0 | non-pleiotropic | VAR_015560 | p.Ile423Thr | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_015680 | p.Ile86Phe | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010757 | p.Glu486Lys | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_054115 | p.Val195Phe | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010767 | p.Cys570Tyr | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010760 | p.Ser52Gly | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010766 | p.Arg545Cys | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010764 | p.Arg269Gln | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_015681 | p.Gly368Arg | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_054117 | p.Gly474Arg | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_054118 | p.Arg545His | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010763 | p.Arg138His | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010761 | p.Ser79Leu | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010759 | p.Arg15Ser | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_054113 | p.Ala51Pro | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010765 | p.Leu309Arg | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_010762 | p.Val82Phe | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_054114 | p.Tyr89Cys | Disease | - | - | Giant axonal neuropathy (GAN) [MIM:256850] |
Q9H2C0 | non-pleiotropic | VAR_054116 | p.Pro315Leu | Disease | rs144486241 | 0.0002 | Giant axonal neuropathy (GAN) [MIM:256850] |