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 103 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9UPY3 | pleiotropic | VAR_063150 | p.Leu1583Arg | Disease | - | - | Pleuropulmonary blastoma (PPB) [MIM:601200] |
Q8IYB7 | non-pleiotropic | VAR_067578 | p.Cys489Tyr | Disease | - | - | Perlman syndrome (PRLMNS) [MIM:267000] |
Q8IYB7 | non-pleiotropic | VAR_038059 | p.Pro12Ser | Non-Disease | rs723044 | 0.0643 | - |
P09622 | non-pleiotropic | VAR_006907 | p.Lys72Glu | Disease | - | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] |
P09622 | non-pleiotropic | VAR_031922 | p.Lys104Thr | Non-Disease | rs1130477 | - | - |
P09622 | non-pleiotropic | VAR_014555 | p.Leu331Val | Non-Disease | rs17624 | - | - |
P09622 | non-pleiotropic | VAR_006908 | p.Pro488Leu | Disease | - | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] |
P09622 | non-pleiotropic | VAR_015820 | p.Gly229Cys | Disease | - | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] |
P09622 | non-pleiotropic | VAR_015821 | p.Arg495Gly | Disease | - | - | Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] |
Q9NYJ7 | non-pleiotropic | VAR_046782 | p.Ala115Thr | Non-Disease | - | - | - |
Q9NYJ7 | non-pleiotropic | VAR_046783 | p.Leu142Gln | Non-Disease | rs55741253 | 0.0436 | - |
Q9NYJ7 | non-pleiotropic | VAR_009952 | p.Gly385Asp | Disease | - | - | Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300] |
Q9NYJ7 | non-pleiotropic | VAR_046784 | p.Phe172Cys | Non-Disease | rs8107127 | 0.2415 | - |
Q9NYJ7 | non-pleiotropic | VAR_016776 | p.Leu218Pro | Non-Disease | rs1110627 | 0.37 | - |
P56178 | non-pleiotropic | VAR_033874 | p.Ser234Arg | Non-Disease | rs35273378 | 0.0009 | - |
P56178 | non-pleiotropic | VAR_067413 | p.Gln178Pro | Disease | - | - | Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600] |
P11532 | pleiotropic | VAR_057647 | p.Arg2108Cys | Non-Disease | rs16990169 | 0.0132 | - |
P11532 | pleiotropic | VAR_005160 | p.Lys1377Asn | Non-Disease | rs1800263 | - | - |
P11532 | pleiotropic | VAR_023539 | p.Ala171Pro | Disease | - | - | Becker muscular dystrophy (BMD) [MIM:300376] |
P11532 | pleiotropic | VAR_057645 | p.Thr1136Ser | Non-Disease | rs3827462 | 0.017 | - |
P11532 | pleiotropic | VAR_005172 | p.Ala3421Val | Disease | - | - | Becker muscular dystrophy (BMD) [MIM:300376] |
P11532 | pleiotropic | VAR_023544 | p.Phe3228Leu | Disease | - | - | Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045] |
P11532 | pleiotropic | VAR_005155 | p.Ala784Gly | Non-Disease | rs1800260 | - | - |
P11532 | pleiotropic | VAR_023540 | p.Thr279Ala | Disease | - | - | Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045] |
P11532 | pleiotropic | VAR_023545 | p.Cys3313Phe | Disease | - | - | Duchenne muscular dystrophy (DMD) [MIM:310200] |
P11532 | pleiotropic | VAR_005169 | p.Asn2912Asp | Non-Disease | rs1800278 | 0.0371 | - |
P11532 | pleiotropic | VAR_005167 | p.Lys2366Gln | Non-Disease | rs1800275 | 0.1833 | - |
P11532 | pleiotropic | VAR_005148 | p.Gln133Pro | Non-Disease | rs1800256 | - | - |
P11532 | pleiotropic | VAR_023541 | p.Asp645Gly | Disease | - | - | Duchenne muscular dystrophy (DMD) [MIM:310200] |
P11532 | pleiotropic | VAR_005154 | p.Lys773Glu | Disease | - | - | Duchenne muscular dystrophy (DMD) [MIM:310200] |
P11532 | pleiotropic | VAR_023543 | p.Asn2299Thr | Non-Disease | - | - | - |
P11532 | pleiotropic | VAR_005151 | p.Gln365His | Non-Disease | rs1800266 | - | - |
P11532 | pleiotropic | VAR_005165 | p.Arg2191Trp | Non-Disease | - | - | - |
P11532 | pleiotropic | VAR_005168 | p.Glu2910Val | Non-Disease | rs41305353 | 0.0358 | - |
P11532 | pleiotropic | VAR_005161 | p.Gln1469Leu | Non-Disease | rs1057872 | - | - |
P11532 | pleiotropic | VAR_005150 | p.Tyr231Asn | Disease | - | - | Becker muscular dystrophy (BMD) [MIM:300376] |
P11532 | pleiotropic | VAR_005162 | p.Arg1745His | Non-Disease | rs1801187 | 0.4652 | - |
P11532 | pleiotropic | VAR_005159 | p.Ala1278Pro | Non-Disease | rs1800270 | - | - |
P11532 | pleiotropic | VAR_057642 | p.Thr409Ser | Non-Disease | rs34155804 | 0.0085 | - |
P11532 | pleiotropic | VAR_005164 | p.Arg2155Trp | Non-Disease | rs1800273 | 0.013 | - |
P11532 | pleiotropic | VAR_057643 | p.Ala573Val | Non-Disease | rs5972599 | 0.005 | - |
P11532 | pleiotropic | VAR_023547 | p.Cys3340Tyr | Disease | - | - | Duchenne muscular dystrophy (DMD) [MIM:310200] |
P11532 | pleiotropic | VAR_023546 | p.Asp3335His | Disease | - | - | Duchenne muscular dystrophy (DMD) [MIM:310200] |
P11532 | pleiotropic | VAR_005171 | p.Gln2937Arg | Non-Disease | rs1800280 | 0.1181 | - |
P11532 | pleiotropic | VAR_005170 | p.His2921Arg | Disease | rs1800279 | 0.0148 | Becker muscular dystrophy (BMD) [MIM:300376] |
P11532 | pleiotropic | VAR_005153 | p.Leu623Ile | Non-Disease | rs1800259 | - | - |
P11532 | pleiotropic | VAR_005156 | p.Asp882Gly | Non-Disease | rs228406 | 0.2517 | - |
P11532 | pleiotropic | VAR_057646 | p.Phe1388Val | Non-Disease | rs28715870 | 0.0281 | - |
P11532 | pleiotropic | VAR_023537 | p.Lys18Asn | Disease | - | - | Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045] |
P11532 | pleiotropic | VAR_023542 | p.Asn1672Lys | Disease | rs16990264 | 0.023 | Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045] |