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 110 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P98172 | non-pleiotropic | VAR_023135 | p.Pro119Thr | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_059256 | p.Thr172Met | Non-Disease | rs7889678 | - | - |
P98172 | non-pleiotropic | VAR_023136 | p.Thr137Ala | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023132 | p.Gln115Pro | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023141 | p.Cys153Tyr | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023140 | p.Cys153Ser | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023142 | p.Arg154His | Non-Disease | - | - | - |
P98172 | non-pleiotropic | VAR_023146 | p.Ser182Arg | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023144 | p.Met158Ile | Disease | rs28935170 | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023134 | p.Pro119Ser | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
P98172 | non-pleiotropic | VAR_023131 | p.Thr111Ile | Disease | - | - | Craniofrontonasal syndrome (CFNS) [MIM:304110] |
Q15029 | non-pleiotropic | VAR_067582 | p.Leu637Arg | Disease | - | - | Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] |
Q15029 | non-pleiotropic | VAR_014931 | p.Gly773Val | Non-Disease | rs1056505 | - | - |
Q15029 | non-pleiotropic | VAR_067581 | p.Cys476Arg | Disease | - | - | Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] |
Q15029 | non-pleiotropic | VAR_067580 | p.Arg262Trp | Disease | - | - | Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] |
P01133 | non-pleiotropic | VAR_020165 | p.Met842Thr | Non-Disease | rs11569046 | 0.0298 | - |
P01133 | non-pleiotropic | VAR_033826 | p.Leu292His | Non-Disease | rs35191533 | 0.0037 | - |
P01133 | non-pleiotropic | VAR_020968 | p.Asp257His | Non-Disease | rs11568911 | 0.0037 | - |
P01133 | non-pleiotropic | VAR_020166 | p.Leu1043Phe | Non-Disease | rs11569098 | 0.0069 | - |
P01133 | non-pleiotropic | VAR_020970 | p.Glu920Val | Non-Disease | rs4698803 | 0.0882 | - |
P01133 | non-pleiotropic | VAR_020972 | p.Ala1084Gly | Non-Disease | rs11569111 | 0.0087 | - |
P01133 | non-pleiotropic | VAR_020969 | p.Ser638Arg | Non-Disease | rs11568992 | 0.0041 | - |
P01133 | non-pleiotropic | VAR_039474 | p.Pro1070Leu | Disease | - | - | Hypomagnesemia 4 (HOMG4) [MIM:611718] |
P01133 | non-pleiotropic | VAR_020971 | p.Asp981Glu | Non-Disease | rs11569086 | 0.0002 | - |
P01133 | non-pleiotropic | VAR_020163 | p.Gly723Arg | Non-Disease | rs6413481 | 0.0002 | - |
P01133 | non-pleiotropic | VAR_020162 | p.Arg431Lys | Non-Disease | rs11568943 | 0.163 | - |
P01133 | non-pleiotropic | VAR_002275 | p.Met708Ile | Non-Disease | rs2237051 | 0.4068 | - |
P01133 | non-pleiotropic | VAR_020164 | p.Asp784Val | Non-Disease | rs11569017 | 0.0918 | - |
P01133 | non-pleiotropic | VAR_020161 | p.Ser16Arg | Non-Disease | rs11568849 | 0.0078 | - |
P01133 | non-pleiotropic | VAR_033825 | p.His151Tyr | Non-Disease | rs9991664 | 0.0156 | - |
Q9GZT9 | non-pleiotropic | VAR_027371 | p.Pro317Arg | Disease | - | - | Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] |
Q9GZT9 | non-pleiotropic | VAR_045902 | p.Arg371His | Disease | - | - | Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] |
Q08426 | non-pleiotropic | VAR_070949 | p.Glu3Lys | Disease | - | - | Fanconi renotubular syndrome 3 (FRTS3) [MIM:615605] |
Q08426 | non-pleiotropic | VAR_047134 | p.Thr606Pro | Non-Disease | rs1042438 | - | - |
Q08426 | non-pleiotropic | VAR_047133 | p.Ala274Thr | Non-Disease | rs2302819 | 0.084 | - |
Q08426 | non-pleiotropic | VAR_054332 | p.Lys598Thr | Non-Disease | rs1042437 | - | - |
Q08426 | non-pleiotropic | VAR_054329 | p.Val40Gly | Non-Disease | rs1062551 | - | - |
Q08426 | non-pleiotropic | VAR_054331 | p.Ala325Gly | Non-Disease | rs1062555 | - | - |
Q08426 | non-pleiotropic | VAR_047135 | p.Gln685Lys | Non-Disease | rs11919970 | 0.1616 | - |
Q08426 | non-pleiotropic | VAR_054330 | p.Ile41Arg | Non-Disease | rs1062552 | - | - |
Q08426 | non-pleiotropic | VAR_047132 | p.Thr75Ile | Non-Disease | rs1062553 | - | - |
Q08426 | non-pleiotropic | VAR_047136 | p.Leu715Ser | Non-Disease | rs11927618 | 0.0193 | - |
Q9H9B1 | non-pleiotropic | VAR_069183 | p.Cys1075Tyr | Disease | - | - | Kleefstra syndrome (KLESTS) [MIM:610253] |
Q9H9B1 | non-pleiotropic | VAR_027642 | p.Ala388Thr | Non-Disease | rs11137198 | 0.0087 | - |
Q9NZJ5 | non-pleiotropic | VAR_040477 | p.Asp566Val | Non-Disease | rs55791823 | 0.0009 | - |
Q9NZJ5 | non-pleiotropic | VAR_011409 | p.Ser136Cys | Non-Disease | rs867529 | 0.2883 | - |
Q9NZJ5 | non-pleiotropic | VAR_011411 | p.Ala704Ser | Non-Disease | rs1805165 | 0.2879 | - |
Q9NZJ5 | non-pleiotropic | VAR_011410 | p.Gln166Arg | Non-Disease | rs13045 | 0.3471 | - |
Q9NZJ5 | non-pleiotropic | VAR_011408 | p.Arg588Gln | Disease | - | - | Wolcott-Rallison syndrome (WRS) [MIM:226980] |
Q9NZJ5 | non-pleiotropic | VAR_040478 | p.Pro716Leu | Non-Disease | - | - | - |