Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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UniProtID
Disease name
Protein type
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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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]