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
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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 12 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P37023 non-pleiotropic VAR_070335 p.Pro378Ser Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026803 p.Glu379Lys Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006214 p.Pro424Thr Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026787 p.Asp179Ala Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_011717 p.Ile245Asn Non-Disease rs1804508 - -
P37023 non-pleiotropic VAR_070327 p.His280Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070323 p.Gln237Lys Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070309 p.Cys34Tyr Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026806 p.Trp399Ser Disease rs28936402 - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006213 p.Arg411Gln Disease rs28936398 - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026816 p.Lys487Thr Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026791 p.Lys229Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026811 p.Phe425Val Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026790 p.Gly223Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026809 p.Arg411Trp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026805 p.Ile398Asn Disease rs28936400 - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070318 p.Thr197Ile Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026798 p.Cys344Tyr Disease rs28936688 - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070330 p.His328Gln Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070311 p.Trp50Gly Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070317 p.Asp176Tyr Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026813 p.Arg479Leu Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026789 p.Glu215Lys Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070316 p.Leu138Pro Non-Disease - - -
P37023 non-pleiotropic VAR_070319 p.Trp217Gly Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026794 p.Leu285Phe Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070331 p.Asn335His Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006212 p.Met376Arg Disease rs28936399 - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070339 p.Pro424Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026797 p.Leu337Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006206 p.Arg67Gln Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070329 p.Leu294Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070312 p.Thr52Ala Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026788 p.Gly211Asp Disease rs28936687 - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026810 p.Phe425Leu Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070314 p.Cys69Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_006205 p.Cys51Tyr Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070333 p.Cys344Arg Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026801 p.Met376Val Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026802 p.Pro378Leu Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070322 p.Ser233Leu Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070334 p.Ala347Asp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070342 p.Pro449Ser Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026815 p.Arg484Trp Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070321 p.Val226Glu Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_026804 p.Asp397Gly Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070325 p.Thr265Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070310 p.Ser38Cys Non-Disease - - -
P37023 non-pleiotropic VAR_070340 p.Tyr426Cys Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]
P37023 non-pleiotropic VAR_070313 p.His66Pro Disease - - Telangiectasia, hereditary hemorrhagic, 2 (HHT2) [MIM:600376]