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 52 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P01024 | pleiotropic | VAR_029326 | p.Ser1619Arg | Non-Disease | rs2230210 | 0.0009 | - |
P01024 | pleiotropic | VAR_063220 | p.His1464Asp | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
P01024 | pleiotropic | VAR_063217 | p.Asp1115Asn | Disease | - | - | Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] |
Q9H799 | non-pleiotropic | VAR_042948 | p.Ile1437Thr | Non-Disease | rs6859950 | 0.0119 | - |
Q9H799 | non-pleiotropic | VAR_042951 | p.Pro2592Leu | Non-Disease | rs16903518 | 0.0207 | - |
Q9H799 | non-pleiotropic | VAR_068167 | p.Phe2033Ser | Non-Disease | rs10076911 | 0.1727 | - |
Q9H799 | non-pleiotropic | VAR_068165 | p.Arg1336Trp | Disease | - | - | Joubert syndrome 17 (JBTS17) [MIM:614615] |
Q9H799 | non-pleiotropic | VAR_042952 | p.Gly3062Arg | Non-Disease | rs7702892 | 0.0207 | - |
Q9H799 | non-pleiotropic | VAR_042949 | p.Phe2033Cys | Non-Disease | rs10076911 | 0.1492 | - |
Q9H799 | non-pleiotropic | VAR_042950 | p.Ile2143Val | Non-Disease | rs6884652 | 0.045 | - |
Q9H799 | non-pleiotropic | VAR_068166 | p.Pro1794Leu | Non-Disease | rs75589774 | 0.084 | - |
P10643 | non-pleiotropic | VAR_012645 | p.Arg521Ser | Disease | rs121964920 | 0.001 | Complement component 7 deficiency (C7D) [MIM:610102] |
P10643 | non-pleiotropic | VAR_033799 | p.Thr587Pro | Non-Disease | rs13157656 | 0.1809 | - |
P10643 | non-pleiotropic | VAR_050480 | p.Cys128Arg | Non-Disease | rs2271708 | 0.0234 | - |
P10643 | non-pleiotropic | VAR_012647 | p.Arg687His | Disease | - | - | Complement component 7 deficiency (C7D) [MIM:610102] |
P10643 | non-pleiotropic | VAR_022023 | p.Lys420Gln | Non-Disease | rs3792646 | 0.0038 | - |
P10643 | non-pleiotropic | VAR_012643 | p.Arg220Gln | Disease | - | - | Complement component 7 deficiency (C7D) [MIM:610102] |
P10643 | non-pleiotropic | VAR_012644 | p.Gly379Arg | Disease | - | - | Complement component 7 deficiency (C7D) [MIM:610102] |
P10643 | non-pleiotropic | VAR_012646 | p.Glu682Gln | Disease | - | - | Complement component 7 deficiency (C7D) [MIM:610102] |
P10643 | non-pleiotropic | VAR_033798 | p.Ser389Thr | Non-Disease | rs1063499 | 0.4894 | - |
O43570 | non-pleiotropic | VAR_065292 | p.Glu143Lys | Disease | - | - | Hyperchlorhidrosis, isolated (HCHLH) [MIM:143860] |
P00918 | non-pleiotropic | VAR_001382 | p.His107Tyr | Disease | - | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] |
P00918 | non-pleiotropic | VAR_001384 | p.Asn252Asp | Non-Disease | rs2228063 | 0.0285 | - |
P00918 | non-pleiotropic | VAR_021010 | p.Gly144Arg | Disease | - | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] |
P00918 | non-pleiotropic | VAR_001381 | p.Gln92Pro | Disease | - | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] |
P00918 | non-pleiotropic | VAR_021009 | p.His94Tyr | Disease | - | - | Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730] |
P22748 | non-pleiotropic | VAR_024749 | p.Arg14Trp | Disease | - | - | Retinitis pigmentosa 17 (RP17) [MIM:600852] |
P22748 | non-pleiotropic | VAR_048680 | p.Val237Leu | Non-Disease | rs2229178 | 0.0014 | - |
P22748 | non-pleiotropic | VAR_024750 | p.Arg219Ser | Disease | - | - | Retinitis pigmentosa 17 (RP17) [MIM:600852] |
P35219 | non-pleiotropic | VAR_063634 | p.Ser100Pro | Disease | - | - | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227] |
P57796 | non-pleiotropic | VAR_029375 | p.Arg124Cys | Disease | rs121917828 | 0.0004 | Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427] |
O00555 | pleiotropic | VAR_043832 | p.Phe1403Cys | Disease | rs121908227 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_063689 | p.Met798Thr | Disease | rs121908241 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_067342 | p.Glu388Lys | Disease | - | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_063684 | p.Leu389Phe | Disease | rs121908239 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_043824 | p.Cys287Tyr | Disease | rs121908236 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_063706 | p.Val1695Ile | Disease | rs121908224 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_043833 | p.Val1456Leu | Disease | rs121908237 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_063688 | p.Gly638Asp | Disease | rs121908246 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_059221 | p.Glu732Ala | Non-Disease | rs16019 | 0.0069 | - |
O00555 | pleiotropic | VAR_014463 | p.Pro2394Ser | Non-Disease | rs16056 | - | - |
O00555 | pleiotropic | VAR_043828 | p.Glu993Val | Non-Disease | rs16023 | 0.1244 | - |
O00555 | pleiotropic | VAR_063685 | p.Ala405Thr | Disease | rs1219082456Spinocerebellar | - | Spinocerebellar ataxia 6 (SCA6) [MIM:183086] |
O00555 | pleiotropic | VAR_043825 | p.Gly293Arg | Disease | rs121908215 | - | Episodic ataxia 2 (EA2) [MIM:108500] Spinocerebellar ataxia 6 (SCA6) [MIM:183086] |
O00555 | pleiotropic | VAR_063686 | p.Ala454Thr | Non-Disease | rs41276886 | 0.0018 | - |
O00555 | pleiotropic | VAR_043823 | p.Cys256Arg | Disease | rs121908231 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_059222 | p.Pro1173Leu | Non-Disease | rs16028 | - | - |
O00555 | pleiotropic | VAR_043827 | p.Asp715Glu | Disease | rs121908218 | - | Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500] |
O00555 | pleiotropic | VAR_063687 | p.Thr501Met | Disease | rs121908240 | - | Episodic ataxia 2 (EA2) [MIM:108500] |
O00555 | pleiotropic | VAR_063683 | p.Tyr248Cys | Disease | rs121908238 | - | Episodic ataxia 2 (EA2) [MIM:108500] |