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 102 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9UBM7 non-pleiotropic VAR_023157 p.Trp182Cys Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012720 p.His119Leu Disease rs28938174 - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023156 p.Ser169Leu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023179 p.Tyr408His Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023154 p.Gly147Asp Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023167 p.Cys311Gly Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023182 p.Arg443Cys Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023173 p.Arg362Cys Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023183 p.Arg446Gln Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012730 p.Gly410Ser Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023152 p.Gly138Val Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_067456 p.Ser5Leu Non-Disease rs1127869 0.0009 -
Q9UBM7 non-pleiotropic VAR_023170 p.Gly344Arg Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023176 p.Ser397Leu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012726 p.Val326Leu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_052154 p.Gly425Ser Non-Disease rs760242 0.0006 -
Q9UBM7 non-pleiotropic VAR_023165 p.Val281Met Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012728 p.Cys380Ser Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023160 p.Lys198Glu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_016975 p.Glu448Lys Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012725 p.Thr289Ile Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023158 p.Trp182Leu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023178 p.His405Tyr Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023174 p.Cys380Arg Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012723 p.Ala247Val Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023155 p.Thr154Met Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012722 p.Gly244Arg Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023150 p.Leu109Pro Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023175 p.Cys380Tyr Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023162 p.Arg242Cys Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023159 p.Cys183Tyr Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023168 p.Cys311Tyr Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023166 p.Ile297Thr Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q86SQ9 non-pleiotropic VAR_065356 p.Lys42Glu Disease - - Retinitis pigmentosa 59 (RP59) [MIM:613861]
Q86SQ9 non-pleiotropic VAR_028088 p.Val253Met Non-Disease rs3816539 0.4192 -
P00374 non-pleiotropic VAR_065819 p.Asp153Val Disease - - Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
P00374 non-pleiotropic VAR_065818 p.Leu80Phe Disease - - Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
Q02127 non-pleiotropic VAR_062415 p.Arg199Cys Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062414 p.Gly152Arg Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062418 p.Arg244Trp Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062417 p.Gly202Asp Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062412 p.Gly19Glu Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062413 p.Arg135Cys Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062416 p.Gly202Ala Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062419 p.Thr284Ile Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_062420 p.Arg346Trp Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q02127 non-pleiotropic VAR_022094 p.Lys7Gln Non-Disease rs3213422 0.4359 -
Q02127 non-pleiotropic VAR_062421 p.Asp392Gly Disease - - Postaxial acrofacial dysostosis (POADS) [MIM:263750]
Q9NR28 non-pleiotropic VAR_066487 p.Ser126Leu Disease - - Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152]
Q9UPY3 pleiotropic VAR_065301 p.Ser839Phe Disease - - Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800]