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 104 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P11532 | pleiotropic | VAR_005149 | p.Ala168Asp | Disease | - | - | Becker muscular dystrophy (BMD) [MIM:300376] |
P11532 | pleiotropic | VAR_005158 | p.Thr1245Ile | Non-Disease | rs1800269 | 0.0085 | - |
P11532 | pleiotropic | VAR_005147 | p.Leu54Arg | Disease | - | - | Duchenne muscular dystrophy (DMD) [MIM:310200] |
P11532 | pleiotropic | VAR_057644 | p.Thr715Ser | Non-Disease | rs16998350 | 0.0074 | - |
P11532 | pleiotropic | VAR_005163 | p.Arg1844Ser | Non-Disease | rs1801186 | - | - |
P11532 | pleiotropic | VAR_062110 | p.Ser666Leu | Non-Disease | rs34563188 | 0.005 | - |
P11532 | pleiotropic | VAR_005157 | p.Val1197Phe | Non-Disease | rs1800262 | - | - |
Q9UI17 | non-pleiotropic | VAR_014951 | p.Ala530Gly | Non-Disease | rs1805073 | 0.2989 | - |
Q9UI17 | non-pleiotropic | VAR_014952 | p.Ser646Pro | Non-Disease | rs1805074 | 0.2961 | - |
Q9UI17 | non-pleiotropic | VAR_011505 | p.His109Arg | Disease | rs121908331 | 0.0022 | DMGDH deficiency (DMGDHD) [MIM:605850] |
Q9UI17 | non-pleiotropic | VAR_014950 | p.Ser279Pro | Non-Disease | rs532964 | 0.3921 | - |
P51530 | non-pleiotropic | VAR_069907 | p.Val637Ile | Disease | - | - | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] |
P51530 | non-pleiotropic | VAR_069905 | p.Arg198His | Disease | - | - | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] |
P51530 | non-pleiotropic | VAR_069906 | p.Lys227Glu | Disease | - | - | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156] |
Q8NEP3 | non-pleiotropic | VAR_047671 | p.Gly703Arg | Non-Disease | rs4150188 | 0.0005 | - |
Q8NEP3 | non-pleiotropic | VAR_047664 | p.Glu432Asp | Non-Disease | rs9972733 | 0.1006 | - |
Q8NEP3 | non-pleiotropic | VAR_047665 | p.Pro502Leu | Non-Disease | rs11644164 | 0.3099 | - |
Q8NEP3 | non-pleiotropic | VAR_047672 | p.Pro712Ala | Non-Disease | rs4150187 | 0.0064 | - |
Q8NEP3 | non-pleiotropic | VAR_047670 | p.Ser675Thr | Non-Disease | rs2288023 | 0.3026 | - |
Q8NEP3 | non-pleiotropic | VAR_047668 | p.Leu659Pro | Non-Disease | rs2288022 | 0.3021 | - |
Q8NEP3 | non-pleiotropic | VAR_063098 | p.Leu175Arg | Disease | - | - | Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193] |
Q8NEP3 | non-pleiotropic | VAR_047662 | p.Asp387Glu | Non-Disease | rs36062234 | 0.0533 | - |
Q8NEP3 | non-pleiotropic | VAR_047666 | p.Phe545Cys | Non-Disease | rs17856706 | - | - |
Q8NEP3 | non-pleiotropic | VAR_047669 | p.Leu659Val | Non-Disease | rs2288021 | 0.1387 | - |
Q8NEP3 | non-pleiotropic | VAR_047667 | p.Leu633Ser | Non-Disease | rs2288020 | 0.303 | - |
Q8NEP3 | non-pleiotropic | VAR_047663 | p.Lys393Arg | Non-Disease | rs17856705 | 0.3646 | - |
Q8N9W5 | non-pleiotropic | VAR_055307 | p.Gly331Trp | Non-Disease | rs7508641 | - | - |
Q8N9W5 | non-pleiotropic | VAR_055308 | p.Asp365Asn | Non-Disease | rs890872 | 0.0 | - |
Q8N9W5 | non-pleiotropic | VAR_067301 | p.Ala278Thr | Non-Disease | - | - | - |
Q8N9W5 | non-pleiotropic | VAR_067300 | p.Leu61Pro | Disease | - | - | Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763] |
Q8N9W5 | non-pleiotropic | VAR_055306 | p.Glu292Gly | Non-Disease | rs2365725 | 0.2089 | - |
Q96DT5 | non-pleiotropic | VAR_042946 | p.Met4172Val | Non-Disease | rs6461613 | 0.3526 | - |
Q96DT5 | non-pleiotropic | VAR_013854 | p.Val1023Ala | Non-Disease | rs10269582 | 0.2433 | - |
Q96DT5 | non-pleiotropic | VAR_013852 | p.Gln639Arg | Non-Disease | rs12670130 | 0.1676 | - |
Q96DT5 | non-pleiotropic | VAR_013860 | p.Ala3474Thr | Non-Disease | rs2214326 | 0.4991 | - |
Q96DT5 | non-pleiotropic | VAR_013859 | p.Arg3004Gln | Disease | rs35865357 | 0.006 | Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884] |
Q96DT5 | non-pleiotropic | VAR_013853 | p.Ser654Cys | Non-Disease | - | 0.0918 | - |
Q96DT5 | non-pleiotropic | VAR_042944 | p.Glu34Val | Non-Disease | rs2285944 | 0.3747 | - |
Q96DT5 | non-pleiotropic | VAR_013855 | p.Thr1038Ala | Non-Disease | rs10224537 | 0.2181 | - |
Q96DT5 | non-pleiotropic | VAR_013863 | p.Thr4177Ile | Non-Disease | rs12537531 | 0.3684 | - |
Q96DT5 | non-pleiotropic | VAR_042945 | p.Met1316Val | Non-Disease | rs17144788 | 0.0119 | - |
Q96DT5 | non-pleiotropic | VAR_013862 | p.Ser3765Pro | Non-Disease | rs17145720 | 0.0762 | - |
Q96DT5 | non-pleiotropic | VAR_013857 | p.Ser2641Asn | Non-Disease | rs9639393 | 0.3728 | - |
Q96DT5 | non-pleiotropic | VAR_013856 | p.Asp1640Gly | Non-Disease | rs17144835 | 0.0344 | - |
Q96DT5 | non-pleiotropic | VAR_013858 | p.Ile2682Val | Non-Disease | - | 0.0032 | - |
Q96DT5 | non-pleiotropic | VAR_060141 | p.Tyr2593His | Non-Disease | rs2003417 | 0.0188 | - |
Q96DT5 | non-pleiotropic | VAR_013861 | p.Leu3715Val | Non-Disease | rs4722064 | 0.4595 | - |
Q9UI46 | non-pleiotropic | VAR_033877 | p.Gln326His | Non-Disease | rs16931555 | 0.0083 | - |
Q9UI46 | non-pleiotropic | VAR_033879 | p.Val487Gly | Non-Disease | rs11999454 | 0.0675 | - |
Q9UI46 | non-pleiotropic | VAR_033878 | p.Val335Ile | Non-Disease | rs11793196 | 0.1598 | - |