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 101 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P17661 | pleiotropic | VAR_067210 | p.Asp399Tyr | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042458 | p.Arg406Trp | Disease | rs61726465 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042449 | p.Ser46Phe | Disease | rs60794845 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042462 | p.Arg454Trp | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042461 | p.Lys449Thr | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042450 | p.Ser46Tyr | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042457 | p.Leu370Pro | Disease | rs59308628 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_069074 | p.Pro419Ser | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_009189 | p.Leu345Pro | Disease | rs57639980 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042453 | p.Asn342Asp | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_067209 | p.Leu338Arg | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_018771 | p.Leu385Pro | Disease | rs57955682 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_042455 | p.Arg355Pro | Disease | rs61368398 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_018772 | p.Gln389Pro | Disease | rs28930075 | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
P17661 | pleiotropic | VAR_007901 | p.Ala360Pro | Disease | - | - | Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] |
Q0ZLH3 | non-pleiotropic | VAR_053103 | p.Arg265Cys | Non-Disease | rs17304212 | 0.0436 | - |
Q0ZLH3 | non-pleiotropic | VAR_068891 | p.Cys343Ser | Disease | - | - | Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] |
Q0ZLH3 | non-pleiotropic | VAR_027388 | p.Arg183Trp | Disease | - | - | Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] |
Q0ZLH3 | non-pleiotropic | VAR_027387 | p.Thr54Ile | Disease | - | - | Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220] |
P52429 | non-pleiotropic | VAR_069804 | p.Arg63Pro | Disease | rs312262694 | - | Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008] |
P52429 | non-pleiotropic | VAR_069805 | p.Arg273Pro | Disease | rs312262695 | - | Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008] |
Q16854 | non-pleiotropic | VAR_019417 | p.Arg142Lys | Disease | - | - | Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] |
Q16854 | non-pleiotropic | VAR_019418 | p.Glu227Lys | Disease | - | - | Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] |
Q16854 | non-pleiotropic | VAR_023789 | p.Leu250Ser | Disease | - | - | Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880] |
Q15392 | non-pleiotropic | VAR_012735 | p.Tyr471Ser | Disease | rs28939092 | - | Desmosterolosis (DESMOS) [MIM:602398] |
Q15392 | non-pleiotropic | VAR_012732 | p.Glu191Lys | Disease | rs28939093 | - | Desmosterolosis (DESMOS) [MIM:602398] |
Q15392 | non-pleiotropic | VAR_012734 | p.Lys306Asn | Disease | - | - | Desmosterolosis (DESMOS) [MIM:602398] |
Q15392 | non-pleiotropic | VAR_012733 | p.Asn294Thr | Disease | - | - | Desmosterolosis (DESMOS) [MIM:602398] |
Q9UBM7 | non-pleiotropic | VAR_012719 | p.Leu99Pro | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023148 | p.Leu68Pro | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012729 | p.Arg404Cys | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023164 | p.Phe255Leu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023181 | p.His426Pro | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012724 | p.Trp248Cys | Disease | rs28939698 | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023153 | p.Ile145Leu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023161 | p.Phe235Ser | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023177 | p.Arg404Ser | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012717 | p.Pro51Ser | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012727 | p.Arg352Trp | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023163 | p.Arg242His | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023184 | p.Glu448Gln | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023171 | p.Arg352Gln | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023169 | p.Tyr324His | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023180 | p.Gly410Arg | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023149 | p.Gln107His | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012721 | p.Leu157Pro | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023151 | p.Ser113Cys | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023172 | p.Val353Ala | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_012718 | p.Thr93Met | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |
Q9UBM7 | non-pleiotropic | VAR_023185 | p.Arg450Leu | Disease | - | - | Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400] |