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 264 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P00480 non-pleiotropic VAR_004845 p.Arg40Cys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004910 p.Met213Lys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004880 p.Leu148Phe Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004914 p.Pro225Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004908 p.Ala208Thr Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004909 p.Ala209Val Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004892 p.Gln180His Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004930 p.Arg277Trp Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004884 p.His168Gln Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004879 p.Arg141Gln Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004887 p.Ala174Pro Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004936 p.Leu304Phe Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004924 p.Ser267Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004912 p.Pro220Ala Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004905 p.Ser203Cys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004870 p.Ala102Glu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004917 p.Leu244Gln Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004890 p.Thr178Met Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004848 p.Thr44Ile Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004927 p.Gln270Arg Non-Disease rs1800328 0.0206 -
P00480 non-pleiotropic VAR_004888 p.Asp175Val Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004893 p.Glu181Gly Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004865 p.Arg92Gln Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004902 p.Gly197Glu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004923 p.Thr264Ile Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004901 p.Asp196Tyr Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004931 p.His302Leu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_012656 p.Thr333Ala Non-Disease - - -
P00480 non-pleiotropic VAR_004904 p.His202Tyr Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004849 p.Leu45Pro Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004895 p.Tyr183Cys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_009233 p.Ile172Phe Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_010606 p.Asn198Lys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004860 p.Gly83Asp Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004898 p.Ser192Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004932 p.His302Gln Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004911 p.Gln216Glu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004856 p.Ser60Leu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004939 p.Arg330Gly Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004862 p.Glu87Lys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004915 p.Pro225Thr Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004869 p.Phe101Leu Non-Disease - - -
P00480 non-pleiotropic VAR_004886 p.Ile172Met Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004883 p.Gly162Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004863 p.Lys88Asn Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004946 p.Tyr345Cys Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004882 p.Asn161Ser Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004942 p.Val339Leu Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004874 p.Thr125Met Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
P00480 non-pleiotropic VAR_004906 p.Met206Arg Disease - - Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]