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 264 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P00480 | non-pleiotropic | VAR_004845 | p.Arg40Cys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004910 | p.Met213Lys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004880 | p.Leu148Phe | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004914 | p.Pro225Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004908 | p.Ala208Thr | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004909 | p.Ala209Val | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004892 | p.Gln180His | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004930 | p.Arg277Trp | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004884 | p.His168Gln | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004879 | p.Arg141Gln | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004887 | p.Ala174Pro | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004936 | p.Leu304Phe | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004924 | p.Ser267Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004912 | p.Pro220Ala | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004905 | p.Ser203Cys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004870 | p.Ala102Glu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004917 | p.Leu244Gln | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004890 | p.Thr178Met | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004848 | p.Thr44Ile | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004927 | p.Gln270Arg | Non-Disease | rs1800328 | 0.0206 | - |
P00480 | non-pleiotropic | VAR_004888 | p.Asp175Val | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004893 | p.Glu181Gly | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004865 | p.Arg92Gln | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004902 | p.Gly197Glu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004923 | p.Thr264Ile | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004901 | p.Asp196Tyr | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004931 | p.His302Leu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_012656 | p.Thr333Ala | Non-Disease | - | - | - |
P00480 | non-pleiotropic | VAR_004904 | p.His202Tyr | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004849 | p.Leu45Pro | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004895 | p.Tyr183Cys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_009233 | p.Ile172Phe | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_010606 | p.Asn198Lys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004860 | p.Gly83Asp | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004898 | p.Ser192Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004932 | p.His302Gln | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004911 | p.Gln216Glu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004856 | p.Ser60Leu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004939 | p.Arg330Gly | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004862 | p.Glu87Lys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004915 | p.Pro225Thr | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004869 | p.Phe101Leu | Non-Disease | - | - | - |
P00480 | non-pleiotropic | VAR_004886 | p.Ile172Met | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004883 | p.Gly162Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004863 | p.Lys88Asn | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004946 | p.Tyr345Cys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004882 | p.Asn161Ser | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004942 | p.Val339Leu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004874 | p.Thr125Met | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004906 | p.Met206Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |