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 101 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P17661 pleiotropic VAR_067210 p.Asp399Tyr Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042458 p.Arg406Trp Disease rs61726465 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042449 p.Ser46Phe Disease rs60794845 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042462 p.Arg454Trp Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042461 p.Lys449Thr Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042450 p.Ser46Tyr Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042457 p.Leu370Pro Disease rs59308628 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_069074 p.Pro419Ser Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_009189 p.Leu345Pro Disease rs57639980 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042453 p.Asn342Asp Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_067209 p.Leu338Arg Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_018771 p.Leu385Pro Disease rs57955682 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042455 p.Arg355Pro Disease rs61368398 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_018772 p.Gln389Pro Disease rs28930075 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_007901 p.Ala360Pro Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
Q0ZLH3 non-pleiotropic VAR_053103 p.Arg265Cys Non-Disease rs17304212 0.0436 -
Q0ZLH3 non-pleiotropic VAR_068891 p.Cys343Ser Disease - - Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
Q0ZLH3 non-pleiotropic VAR_027388 p.Arg183Trp Disease - - Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
Q0ZLH3 non-pleiotropic VAR_027387 p.Thr54Ile Disease - - Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]
P52429 non-pleiotropic VAR_069804 p.Arg63Pro Disease rs312262694 - Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]
P52429 non-pleiotropic VAR_069805 p.Arg273Pro Disease rs312262695 - Hemolytic uremic syndrome atypical 7 (AHUS7) [MIM:615008]
Q16854 non-pleiotropic VAR_019417 p.Arg142Lys Disease - - Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
Q16854 non-pleiotropic VAR_019418 p.Glu227Lys Disease - - Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
Q16854 non-pleiotropic VAR_023789 p.Leu250Ser Disease - - Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
Q15392 non-pleiotropic VAR_012735 p.Tyr471Ser Disease rs28939092 - Desmosterolosis (DESMOS) [MIM:602398]
Q15392 non-pleiotropic VAR_012732 p.Glu191Lys Disease rs28939093 - Desmosterolosis (DESMOS) [MIM:602398]
Q15392 non-pleiotropic VAR_012734 p.Lys306Asn Disease - - Desmosterolosis (DESMOS) [MIM:602398]
Q15392 non-pleiotropic VAR_012733 p.Asn294Thr Disease - - Desmosterolosis (DESMOS) [MIM:602398]
Q9UBM7 non-pleiotropic VAR_012719 p.Leu99Pro Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023148 p.Leu68Pro Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012729 p.Arg404Cys Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023164 p.Phe255Leu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023181 p.His426Pro Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012724 p.Trp248Cys Disease rs28939698 - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023153 p.Ile145Leu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023161 p.Phe235Ser Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023177 p.Arg404Ser Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012717 p.Pro51Ser Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012727 p.Arg352Trp Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023163 p.Arg242His Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023184 p.Glu448Gln Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023171 p.Arg352Gln Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023169 p.Tyr324His Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023180 p.Gly410Arg Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023149 p.Gln107His Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012721 p.Leu157Pro Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023151 p.Ser113Cys Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023172 p.Val353Ala Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_012718 p.Thr93Met Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]
Q9UBM7 non-pleiotropic VAR_023185 p.Arg450Leu Disease - - Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]