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 16 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P30566 | non-pleiotropic | VAR_017086 | p.Arg374Trp | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017089 | p.Asp422Tyr | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_016931 | p.Met26Leu | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_007977 | p.Ser395Arg | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017078 | p.Ala3Val | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017080 | p.Tyr114His | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017087 | p.Arg396Cys | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_000680 | p.Ser438Pro | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_007972 | p.Ile72Val | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_007978 | p.Arg426His | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017092 | p.Ser447Pro | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017079 | p.Pro100Ala | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017093 | p.Arg452Pro | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_037884 | p.Lys147Met | Non-Disease | rs11089991 | 0.0096 | - |
P30566 | non-pleiotropic | VAR_017082 | p.Asp268Asn | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_016932 | p.Thr450Ser | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017088 | p.Arg396His | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017085 | p.Val364Met | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_007973 | p.Arg141Trp | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017081 | p.Arg194Cys | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017090 | p.Leu423Val | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017091 | p.Asp430Asn | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_007975 | p.Lys246Glu | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_007974 | p.Arg190Gln | Disease | rs28941471 | 0.001 | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P20933 | non-pleiotropic | VAR_005072 | p.Arg161Gln | Disease | rs192195150 | 0.0006 | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_015431 | p.Gly252Arg | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_033533 | p.Thr149Ser | Non-Disease | rs2228119 | 0.0657 | - |
P20933 | non-pleiotropic | VAR_015430 | p.Gly252Glu | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_015428 | p.Gly100Glu | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_015432 | p.Thr257Ile | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_005074 | p.Gly302Arg | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_005070 | p.Ser72Pro | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_005071 | p.Ala101Val | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_005069 | p.Gly60Asp | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_005073 | p.Cys163Ser | Disease | rs121964904 | 0.0004 | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_061026 | p.Thr322Ile | Non-Disease | rs56849061 | 0.0028 | - |
P20933 | non-pleiotropic | VAR_005075 | p.Cys306Arg | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
P20933 | non-pleiotropic | VAR_015429 | p.Phe135Ser | Disease | - | - | Aspartylglucosaminuria (AGU) [MIM:208400] |
Q96MI9 | non-pleiotropic | VAR_048605 | p.Ser435Pro | Non-Disease | rs11857527 | 0.1221 | - |
Q96MI9 | non-pleiotropic | VAR_070225 | p.Cys990Ser | Disease | - | - | Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523] |
Q96MI9 | non-pleiotropic | VAR_048604 | p.Pro417Leu | Non-Disease | rs8029810 | 0.0298 | - |
Q96MI9 | non-pleiotropic | VAR_059195 | p.Gln1010Arg | Non-Disease | rs8028043 | 0.1276 | - |
Q8N302 | non-pleiotropic | VAR_017902 | p.Pro698Thr | Non-Disease | rs34400049 | 0.2346 | - |
Q8N302 | non-pleiotropic | VAR_037447 | p.Leu471Pro | Non-Disease | rs17856835 | - | - |
Q8N302 | non-pleiotropic | VAR_017901 | p.Glu133Lys | Disease | rs34203073 | 0.0078 | Klippel-Trenaunay syndrome (KTS) [MIM:149000] |
Q8N302 | non-pleiotropic | VAR_037446 | p.Thr180Ala | Non-Disease | rs9715897 | - | - |
O15120 | non-pleiotropic | VAR_017325 | p.Ala239Val | Disease | rs145975461 | 0.0028 | Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] |
O15120 | non-pleiotropic | VAR_017327 | p.Leu228Pro | Disease | - | - | Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] |
O15120 | non-pleiotropic | VAR_017328 | p.Gly136Arg | Disease | - | - | Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594] |
O00116 | non-pleiotropic | VAR_066931 | p.Thr568Met | Disease | - | - | Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121] |