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 265 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P00480 | non-pleiotropic | VAR_012651 | p.Ile160Ser | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004897 | p.Gly188Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_010608 | p.Thr262Lys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004876 | p.Arg129His | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004873 | p.His117Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004843 | p.Arg26Gln | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004940 | p.Ala336Ser | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004925 | p.Met268Thr | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004934 | p.Cys303Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004929 | p.Arg277Gln | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004900 | p.Asp196Val | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004854 | p.Tyr55Asp | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004920 | p.Asp263Gly | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004913 | p.Pro225Leu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004944 | p.Thr343Lys | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004881 | p.Ile159Thr | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_009234 | p.Gly188Val | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_012653 | p.Met206Ile | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_012655 | p.Pro305His | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004871 | p.Leu111Pro | Non-Disease | rs1800324 | - | - |
P00480 | non-pleiotropic | VAR_004858 | p.Gly79Glu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004872 | p.His117Leu | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004861 | p.Gly83Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004853 | p.Gly50Arg | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004846 | p.Arg40His | Disease | - | - | Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250] |
P00480 | non-pleiotropic | VAR_004847 | p.Leu43Phe | Non-Disease | - | - | - |
Q6ZRI0 | non-pleiotropic | VAR_037415 | p.Ala1832Val | Non-Disease | rs1003490 | 0.1074 | - |
Q6ZRI0 | non-pleiotropic | VAR_037406 | p.Thr375Ser | Non-Disease | rs7130190 | 0.0978 | - |
Q6ZRI0 | non-pleiotropic | VAR_037407 | p.Thr659Met | Non-Disease | rs7112749 | 0.0358 | - |
Q6ZRI0 | non-pleiotropic | VAR_037413 | p.Ala1399Gly | Non-Disease | rs4491195 | - | - |
Q6ZRI0 | non-pleiotropic | VAR_037409 | p.Ala919Thr | Non-Disease | rs2355466 | 0.2773 | - |
Q6ZRI0 | non-pleiotropic | VAR_037410 | p.Arg1075Gln | Non-Disease | rs11024333 | 0.1419 | - |
Q6ZRI0 | non-pleiotropic | VAR_069250 | p.Pro2116Leu | Disease | - | - | Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945] |
Q6ZRI0 | non-pleiotropic | VAR_037412 | p.Pro1129Leu | Non-Disease | rs7936354 | 0.0308 | - |
Q6ZRI0 | non-pleiotropic | VAR_061161 | p.Ala391Asp | Non-Disease | rs61611064 | 0.1132 | - |
Q6ZRI0 | non-pleiotropic | VAR_047262 | p.Ala2006Val | Non-Disease | rs11024341 | 0.0006 | - |
Q6ZRI0 | non-pleiotropic | VAR_037414 | p.Pro1646Leu | Non-Disease | rs2041028 | 0.4347 | - |
Q6ZRI0 | non-pleiotropic | VAR_037411 | p.Ala1112Val | Non-Disease | rs7936324 | 0.0312 | - |
Q6ZRI0 | non-pleiotropic | VAR_037408 | p.Ser692Pro | Non-Disease | rs7106548 | 0.4141 | - |
Q6ZRI0 | non-pleiotropic | VAR_037417 | p.Arg2750Gln | Non-Disease | rs12422210 | 0.0826 | - |
Q6ZRI0 | non-pleiotropic | VAR_037416 | p.Thr1947Met | Non-Disease | rs7111528 | 0.3411 | - |
Q6ZRI0 | non-pleiotropic | VAR_037418 | p.Trp2909Ser | Non-Disease | rs11024357 | 0.1644 | - |
P32243 | pleiotropic | VAR_065952 | p.Arg90Ser | Disease | - | - | Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] |
P32243 | pleiotropic | VAR_029355 | p.Pro133Thr | Disease | - | - | Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] |
P32243 | pleiotropic | VAR_029356 | p.Pro134Ala | Disease | - | - | Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] |
P32243 | pleiotropic | VAR_065953 | p.Asn225Ser | Disease | - | - | Pituitary hormone deficiency, combined, 6 (CPHD6) [MIM:613986] |
P32243 | pleiotropic | VAR_029354 | p.Arg89Gly | Disease | - | - | Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] |
P55809 | non-pleiotropic | VAR_000697 | p.Cys456Phe | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_010337 | p.Gly219Glu | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |
P55809 | non-pleiotropic | VAR_065568 | p.Ser405Pro | Disease | - | - | Succinyl-CoA-3-ketoacid-CoA transferase deficiency (SCOTD) [MIM:245050] |