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 113 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P49961 | non-pleiotropic | VAR_022099 | p.Val293Ile | Non-Disease | rs3793744 | 0.0216 | - |
P49961 | non-pleiotropic | VAR_071082 | p.Gly210Arg | Disease | - | - | Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683] |
Q5NDL2 | non-pleiotropic | VAR_070090 | p.Trp207Ser | Disease | - | - | Adams-Oliver syndrome 4 (AOS4) [MIM:615297] |
Q5NDL2 | non-pleiotropic | VAR_070091 | p.Arg377Gln | Disease | - | - | Adams-Oliver syndrome 4 (AOS4) [MIM:615297] |
Q99814 | non-pleiotropic | VAR_067358 | p.Pro534Leu | Disease | - | - | Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] |
Q99814 | non-pleiotropic | VAR_061262 | p.Pro785Thr | Non-Disease | rs61518065 | 0.0363 | - |
Q99814 | non-pleiotropic | VAR_042443 | p.Gly537Trp | Disease | - | - | Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] |
Q99814 | non-pleiotropic | VAR_067361 | p.Gly537Arg | Disease | - | - | Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] |
Q99814 | non-pleiotropic | VAR_067359 | p.Met535Thr | Disease | - | - | Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] |
Q99814 | non-pleiotropic | VAR_067360 | p.Met535Val | Disease | - | - | Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] |
Q99814 | non-pleiotropic | VAR_061261 | p.Thr766Pro | Non-Disease | rs59901247 | 0.1543 | - |
Q99814 | non-pleiotropic | VAR_067362 | p.Phe540Leu | Disease | - | - | Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] |
Q9H4G0 | non-pleiotropic | VAR_066600 | p.Pro854Ser | Disease | - | - | Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257] |
P16452 | non-pleiotropic | VAR_058100 | p.Arg287Cys | Disease | - | - | Spherocytosis 5 (SPH5) [MIM:612690] |
P16452 | non-pleiotropic | VAR_007482 | p.Ala112Thr | Disease | rs28933988 | - | Spherocytosis 5 (SPH5) [MIM:612690] |
P16452 | non-pleiotropic | VAR_058099 | p.Asp145Tyr | Disease | - | - | Spherocytosis 5 (SPH5) [MIM:612690] |
P16452 | non-pleiotropic | VAR_012268 | p.Arg280Gln | Disease | - | - | Spherocytosis 5 (SPH5) [MIM:612690] |
Q9HCE0 | non-pleiotropic | VAR_035279 | p.Val1058Ala | Non-Disease | rs3744998 | 0.4867 | - |
Q9HCE0 | non-pleiotropic | VAR_035281 | p.Ala1511Val | Non-Disease | rs1893523 | 0.287 | - |
Q9HCE0 | non-pleiotropic | VAR_035283 | p.Arg1985Gln | Non-Disease | rs34674177 | 0.0129 | - |
Q9HCE0 | non-pleiotropic | VAR_069224 | p.Gln336Arg | Disease | rs201757275 | - | Vici syndrome (VICIS) [MIM:242840] |
Q9HCE0 | non-pleiotropic | VAR_062210 | p.Lys182Glu | Non-Disease | rs59422275 | 0.0987 | - |
Q9HCE0 | non-pleiotropic | VAR_035278 | p.Glu844Asp | Non-Disease | rs3744999 | 0.0592 | - |
Q9HCE0 | non-pleiotropic | VAR_035282 | p.Ser1864Asn | Non-Disease | rs34064739 | 0.0358 | - |
Q9HCE0 | non-pleiotropic | VAR_035280 | p.Ile1131Val | Non-Disease | rs3744997 | 0.0037 | - |
P29317 | non-pleiotropic | VAR_042121 | p.Gly391Arg | Non-Disease | rs34192549 | 0.0179 | - |
P29317 | non-pleiotropic | VAR_062532 | p.Arg721Gln | Disease | rs116506614 | 0.0002 | Cataract 6, multiple types (CTRCT6) [MIM:116600] |
P29317 | non-pleiotropic | VAR_042122 | p.Thr511Met | Non-Disease | rs55747232 | 0.0073 | - |
P29317 | non-pleiotropic | VAR_058908 | p.Gly948Trp | Disease | - | - | Cataract 6, multiple types (CTRCT6) [MIM:116600] |
P29317 | non-pleiotropic | VAR_058907 | p.Thr940Ile | Disease | - | - | Cataract 6, multiple types (CTRCT6) [MIM:116600] |
P29317 | non-pleiotropic | VAR_055989 | p.Lys99Asn | Non-Disease | rs1058372 | - | - |
P29317 | non-pleiotropic | VAR_055990 | p.Met631Thr | Non-Disease | rs34021505 | 0.0202 | - |
P29317 | non-pleiotropic | VAR_042123 | p.Arg568His | Non-Disease | rs56198600 | - | - |
P29317 | non-pleiotropic | VAR_042125 | p.Arg876His | Non-Disease | rs35903225 | 0.0106 | - |
P29323 | non-pleiotropic | VAR_032857 | p.Met883Val | Disease | - | - | Prostate cancer (PC) [MIM:176807] |
P29323 | non-pleiotropic | VAR_032855 | p.Val650Ala | Disease | rs142173175 | 0.0056 | Prostate cancer (PC) [MIM:176807] |
P29323 | non-pleiotropic | VAR_032856 | p.His679Asn | Disease | - | - | Prostate cancer (PC) [MIM:176807] |
P29323 | non-pleiotropic | VAR_042174 | p.Asp678Asn | Non-Disease | rs28936395 | 0.0023 | - |
P29323 | non-pleiotropic | VAR_032854 | p.Ala279Ser | Disease | rs35882952 | 0.0024 | Prostate cancer (PC) [MIM:176807] |
P29323 | non-pleiotropic | VAR_042175 | p.Arg844Trp | Non-Disease | rs55826626 | - | - |
P29323 | non-pleiotropic | VAR_042172 | p.Cys289Gly | Non-Disease | - | - | - |
P29323 | non-pleiotropic | VAR_032858 | p.Ile909Met | Disease | - | - | Prostate cancer (PC) [MIM:176807] |
P29323 | non-pleiotropic | VAR_032853 | p.Arg199His | Disease | - | - | Prostate cancer (PC) [MIM:176807] |
P29323 | non-pleiotropic | VAR_042173 | p.Ile361Val | Non-Disease | rs56180036 | 0.0009 | - |
O95278 | non-pleiotropic | VAR_019467 | p.Trp32Gly | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019472 | p.Arg108Cys | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019471 | p.Arg91Pro | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019470 | p.Phe88Leu | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019474 | p.Arg171His | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019481 | p.Pro301Leu | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |