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 92 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P26998 | non-pleiotropic | VAR_025278 | p.His113Asp | Non-Disease | rs9608378 | 0.3246 | - |
P26998 | non-pleiotropic | VAR_025280 | p.Gly165Arg | Disease | - | - | Cataract 22 (CTRCT22) [MIM:609741] |
P07315 | non-pleiotropic | VAR_021142 | p.Thr5Pro | Disease | - | - | Cataract 2, multiple types (CTRCT2) [MIM:604307] |
P07315 | non-pleiotropic | VAR_021144 | p.Arg169Trp | Disease | - | - | Cataract 2, multiple types (CTRCT2) [MIM:604307] |
P07315 | non-pleiotropic | VAR_067212 | p.Gly129Cys | Disease | - | - | Cataract 2, multiple types (CTRCT2) [MIM:604307] |
P07315 | non-pleiotropic | VAR_021143 | p.Arg48His | Non-Disease | rs61751949 | 0.0037 | - |
P07315 | non-pleiotropic | VAR_038432 | p.Phe6Leu | Non-Disease | rs2242072 | - | - |
P07320 | non-pleiotropic | VAR_021146 | p.Met102Val | Non-Disease | - | - | - |
P07320 | non-pleiotropic | VAR_034956 | p.Glu107Ala | Disease | - | - | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
P07320 | non-pleiotropic | VAR_034955 | p.Pro24Ser | Disease | rs28931605 | - | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
P07320 | non-pleiotropic | VAR_021145 | p.Pro24Thr | Disease | - | - | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
P07320 | non-pleiotropic | VAR_010734 | p.Arg37Ser | Disease | - | - | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
P07320 | non-pleiotropic | VAR_010735 | p.Arg59His | Disease | - | - | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
P07320 | non-pleiotropic | VAR_064829 | p.Trp43Arg | Disease | - | - | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
P07320 | non-pleiotropic | VAR_010733 | p.Arg15Cys | Disease | - | - | Cataract 4, multiple types (CTRCT4) [MIM:115700] |
P22914 | non-pleiotropic | VAR_069797 | p.Gly18Val | Disease | - | - | Cataract 20, multiple types (CTRCT20) [MIM:116100] |
P07333 | non-pleiotropic | VAR_067410 | p.Met875Thr | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_042040 | p.Gly413Ser | Non-Disease | rs34951517 | 0.0073 | - |
P07333 | non-pleiotropic | VAR_067398 | p.Glu633Lys | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_067402 | p.Ala770Pro | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_049718 | p.Val279Met | Non-Disease | rs3829986 | 0.0087 | - |
P07333 | non-pleiotropic | VAR_042041 | p.Leu536Val | Non-Disease | rs55942044 | 0.0004 | - |
P07333 | non-pleiotropic | VAR_067407 | p.Phe849Ser | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_067409 | p.Leu868Pro | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_067399 | p.Arg710His | Non-Disease | - | - | - |
P07333 | non-pleiotropic | VAR_067411 | p.Pro878Thr | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_067406 | p.Asp837Tyr | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_042044 | p.Arg921Gln | Non-Disease | rs56059682 | 0.0002 | - |
P07333 | non-pleiotropic | VAR_011953 | p.Tyr969Cys | Non-Disease | rs1801271 | - | - |
P07333 | non-pleiotropic | VAR_067400 | p.Gly747Arg | Non-Disease | rs41355444 | 0.0014 | - |
P07333 | non-pleiotropic | VAR_067401 | p.Met766Thr | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_067397 | p.Gly589Glu | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_042038 | p.Val32Gly | Non-Disease | rs56048668 | 0.0009 | - |
P07333 | non-pleiotropic | VAR_067405 | p.Ile794Thr | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_067404 | p.Ile775Asn | Disease | - | - | Leukoencephalopathy, diffuse hereditary, with spheroids (HDLS) [MIM:221820] |
P07333 | non-pleiotropic | VAR_061290 | p.Ala245Ser | Non-Disease | rs41338945 | 0.0253 | - |
P07333 | non-pleiotropic | VAR_042039 | p.His362Arg | Non-Disease | rs10079250 | 0.1534 | - |
P07333 | non-pleiotropic | VAR_042043 | p.Glu920Asp | Non-Disease | rs34030164 | 0.0009 | - |
P15509 | non-pleiotropic | VAR_058507 | p.Gly196Arg | Disease | - | - | Pulmonary surfactant metabolism dysfunction 4 (SMDP4) [MIM:300770] |
Q99062 | non-pleiotropic | VAR_063065 | p.Thr640Asn | Disease | rs121918426 | 0.002 | Hereditary neutrophilia (NEUTROPHILIA) [MIM:162830] |
Q99062 | non-pleiotropic | VAR_014331 | p.Tyr562His | Non-Disease | rs3917996 | 0.0051 | - |
Q99062 | non-pleiotropic | VAR_014326 | p.Asp320Asn | Non-Disease | rs3918018 | 0.0147 | - |
Q99062 | non-pleiotropic | VAR_014325 | p.Met231Thr | Non-Disease | rs3917973 | 0.0234 | - |
Q99062 | non-pleiotropic | VAR_014328 | p.Glu405Lys | Non-Disease | rs3918019 | 0.0032 | - |
Q99062 | non-pleiotropic | VAR_014330 | p.Asp510His | Non-Disease | rs3917991 | 0.0505 | - |
Q99062 | non-pleiotropic | VAR_014329 | p.Arg440Gln | Non-Disease | rs3918020 | 0.0051 | - |
Q99062 | non-pleiotropic | VAR_014332 | p.Arg583Cys | Non-Disease | rs3917997 | - | - |
Q99062 | non-pleiotropic | VAR_014327 | p.Gln346Arg | Non-Disease | rs3917974 | 0.0234 | - |
P48730 | non-pleiotropic | VAR_029075 | p.Thr44Ala | Disease | - | - | Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] |
P48730 | non-pleiotropic | VAR_042081 | p.Pro401Ala | Non-Disease | rs56124628 | 0.0005 | - |