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 218 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q5S007 | non-pleiotropic | VAR_024938 | p.Arg1067Gln | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_054745 | p.Arg1728Leu | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024934 | p.Ile723Val | Non-Disease | rs10878307 | 0.0404 | - |
Q5S007 | non-pleiotropic | VAR_054742 | p.Ala716Val | Non-Disease | - | - | - |
Q5S007 | non-pleiotropic | VAR_054747 | p.Thr2141Met | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024954 | p.Tyr1699Cys | Disease | rs35801418 | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_054740 | p.Cys228Ser | Non-Disease | rs56108242 | - | - |
Q5S007 | non-pleiotropic | VAR_033903 | p.Ala419Val | Non-Disease | rs34594498 | 0.0032 | - |
Q5S007 | non-pleiotropic | VAR_024962 | p.Asn2261Ile | Non-Disease | rs12581902 | - | - |
Q5S007 | non-pleiotropic | VAR_024933 | p.Asn551Lys | Non-Disease | rs7308720 | 0.1015 | - |
Q5S007 | non-pleiotropic | VAR_024958 | p.Gly2019Ser | Disease | rs34637584 | 0.0002 | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024963 | p.Thr2356Ile | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024946 | p.Arg1441Gly | Disease | rs33939927 | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024957 | p.Ile2012Thr | Disease | rs34015634 | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024961 | p.Pro2119Leu | Non-Disease | rs12423862 | - | - |
Q5S007 | non-pleiotropic | VAR_054750 | p.Leu2466His | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_054746 | p.Leu1870Phe | Non-Disease | - | - | - |
Q5S007 | non-pleiotropic | VAR_054743 | p.Lys871Glu | Non-Disease | - | - | - |
Q5S007 | non-pleiotropic | VAR_024932 | p.Leu119Pro | Non-Disease | rs33995463 | 0.0014 | - |
Q5S007 | non-pleiotropic | VAR_024965 | p.Met2397Thr | Non-Disease | rs3761863 | 0.4495 | - |
Q5S007 | non-pleiotropic | VAR_024941 | p.Ser1228Thr | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024950 | p.Val1598Glu | Disease | rs721710 | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024949 | p.Pro1542Ser | Disease | rs33958906 | 0.0132 | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024964 | p.Gly2385Arg | Non-Disease | rs34778348 | 0.0096 | - |
Q5S007 | non-pleiotropic | VAR_033904 | p.Pro755Leu | Non-Disease | rs34410987 | 0.0018 | - |
Q5S007 | non-pleiotropic | VAR_024960 | p.Asn2081Asp | Non-Disease | rs33995883 | 0.0083 | - |
Q5S007 | non-pleiotropic | VAR_054744 | p.Arg1728His | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024952 | p.Met1646Thr | Non-Disease | rs35303786 | 0.0069 | - |
Q5S007 | non-pleiotropic | VAR_024956 | p.Arg1941His | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024944 | p.Arg1398His | Non-Disease | rs7133914 | 0.0996 | - |
Q5S007 | non-pleiotropic | VAR_024959 | p.Ile2020Thr | Disease | rs35870237 | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024931 | p.Arg50His | Non-Disease | rs2256408 | 0.0308 | - |
Q5S007 | non-pleiotropic | VAR_024940 | p.Ile1122Val | Disease | rs34805604 | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_054741 | p.Met712Val | Disease | - | - | Parkinson disease 8 (PARK8) [MIM:607060] |
Q5S007 | non-pleiotropic | VAR_024937 | p.Asp944Tyr | Non-Disease | rs17519916 | - | - |
Q5S007 | non-pleiotropic | VAR_024942 | p.Pro1262Ala | Non-Disease | rs4640000 | 0.0064 | - |
Q8WZ04 | non-pleiotropic | VAR_047555 | p.Arg158His | Disease | - | - | Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] |
Q8WZ04 | non-pleiotropic | VAR_054957 | p.Glu110Lys | Disease | - | - | Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] |
Q8WZ04 | non-pleiotropic | VAR_054956 | p.Trp105Arg | Disease | - | - | Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] |
Q8WZ04 | non-pleiotropic | VAR_047554 | p.Leu16Pro | Disease | - | - | Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] |
Q8WZ04 | non-pleiotropic | VAR_054955 | p.Arg81Gln | Disease | - | - | Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] |
Q8WZ04 | non-pleiotropic | VAR_047556 | p.Arg208Gln | Disease | rs61741195 | 0.0052 | Deafness, autosomal recessive, 63 (DFNB63) [MIM:611451] |
Q8N2S1 | non-pleiotropic | VAR_037123 | p.Thr820Ala | Non-Disease | rs1051303 | 0.4431 | - |
Q8N2S1 | non-pleiotropic | VAR_037121 | p.Pro679Ala | Non-Disease | rs34299942 | 0.0133 | - |
Q8N2S1 | non-pleiotropic | VAR_064153 | p.Cys311Gly | Disease | - | - | Urban-Rifkin-Davis syndrome (URDS) [MIM:613177] |
Q8N2S1 | non-pleiotropic | VAR_037122 | p.Thr787Ala | Non-Disease | rs1131620 | 0.4431 | - |
Q8N2S1 | non-pleiotropic | VAR_037124 | p.Thr1141Met | Non-Disease | rs10880 | 0.4171 | - |
Q8N2S1 | non-pleiotropic | VAR_037119 | p.Val194Ile | Non-Disease | rs2303729 | 0.4679 | - |
Q8N2S1 | non-pleiotropic | VAR_037120 | p.Arg635Gly | Non-Disease | rs33937741 | 0.017 | - |
Q9HD34 | non-pleiotropic | VAR_070943 | p.Arg68Leu | Disease | - | - | Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595] |