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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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 77 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q16281 non-pleiotropic VAR_047585 p.Phe380Ser Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047604 p.Glu590Lys Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010906 p.Thr291Arg Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047592 p.Asn471Ser Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047599 p.Gly548Arg Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047579 p.Arg277Cys Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047589 p.Arg436Trp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047574 p.Glu228Lys Disease rs147415641 0.0012 Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047569 p.Leu186Phe Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047575 p.Phe249Ser Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047600 p.Arg563His Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047605 p.Glu593Lys Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047594 p.Cys510Ser Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047601 p.Thr565Met Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047596 p.Gly516Glu Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047587 p.Met406Thr Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047570 p.Cys191Tyr Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047580 p.Arg277His Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047595 p.Gly513Glu Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047577 p.Tyr263Asp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010902 p.Thr153Met Non-Disease rs34314205 0.0069 -
Q16281 non-pleiotropic VAR_047573 p.Thr224Arg Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010904 p.Arg283Gln Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047602 p.Arg569His Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_010910 p.Arg410Trp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047598 p.Gly525Asp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q16281 non-pleiotropic VAR_047590 p.Arg439Trp Disease - - Achromatopsia 2 (ACHM2) [MIM:216900]
Q14028 non-pleiotropic VAR_059226 p.Val535Ala Non-Disease rs12927214 0.0487 -
Q14028 non-pleiotropic VAR_059228 p.Leu745Ile Non-Disease rs10459809 0.1061 -
Q14028 non-pleiotropic VAR_059229 p.Lys911Arg Non-Disease rs2303785 0.0895 -
Q14028 non-pleiotropic VAR_059227 p.Asn731Lys Non-Disease rs376270 0.362 -
Q14028 non-pleiotropic VAR_059225 p.Leu479Ile Non-Disease rs2303783 0.0037 -
Q14028 non-pleiotropic VAR_059230 p.Ala961Ser Non-Disease rs16942445 0.0289 -
Q14028 non-pleiotropic VAR_058691 p.Arg100His Non-Disease rs13336595 0.2268 -
Q14028 non-pleiotropic VAR_060491 p.Gly993Val Disease - - Retinitis pigmentosa 45 (RP45) [MIM:613767]
Q9H8M5 non-pleiotropic VAR_065259 p.Arg38Gln Non-Disease rs76057237 0.0349 -
Q9H8M5 non-pleiotropic VAR_065260 p.Thr568Ile Disease - - Hypomagnesemia 6 (HOMG6) [MIM:613882]
Q6P4Q7 non-pleiotropic VAR_058320 p.Ser200Tyr Disease - - Jalili syndrome (JALIS) [MIM:217080]
Q6P4Q7 non-pleiotropic VAR_058322 p.Leu324Pro Disease - - Jalili syndrome (JALIS) [MIM:217080]
Q6P4Q7 non-pleiotropic VAR_058319 p.Ser196Pro Disease - - Jalili syndrome (JALIS) [MIM:217080]
Q6P4Q7 non-pleiotropic VAR_058321 p.Arg236Gln Disease - - Jalili syndrome (JALIS) [MIM:217080]
Q6P4Q7 non-pleiotropic VAR_033365 p.Gly126Arg Non-Disease rs17855817 - -
Q86WW8 non-pleiotropic VAR_065499 p.Ala53Pro Disease - - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q13057 non-pleiotropic VAR_070975 p.Arg499Cys Disease - - Neurodegeneration with brain iron accumulation 6 (NBIA6) [MIM:615643]
Q13057 non-pleiotropic VAR_030299 p.Ser55Tyr Non-Disease rs615942 0.4734 -
O43405 non-pleiotropic VAR_008535 p.Ile109Asn Disease - - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405 non-pleiotropic VAR_050896 p.Glu518Gly Non-Disease rs17097468 0.0119 -
O43405 non-pleiotropic VAR_011926 p.Pro532Ser Non-Disease rs1801963 - -
O43405 non-pleiotropic VAR_070034 p.Cys162Tyr Disease - - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]
O43405 non-pleiotropic VAR_017175 p.Ala119Thr Disease - - Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]