Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 112 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P17813 | non-pleiotropic | VAR_070303 | p.Leu547Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070302 | p.Gly545Ser | Non-Disease | - | - | - |
P17813 | non-pleiotropic | VAR_070289 | p.Ile263Ser | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_014764 | p.Asp366His | Non-Disease | rs1800956 | 0.0289 | - |
P17813 | non-pleiotropic | VAR_070307 | p.Ala604Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_009120 | p.Ala160Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070282 | p.Ala175Glu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070284 | p.Arg205Pro | Non-Disease | - | - | - |
P17813 | non-pleiotropic | VAR_070290 | p.Met269Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070297 | p.Arg437Trp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070301 | p.Gly545Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070288 | p.Val238Glu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_026780 | p.Ile263Thr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070295 | p.Cys394Tyr | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070306 | p.Gly603Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_026774 | p.Leu8Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070300 | p.Arg529Pro | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_026782 | p.Val504Met | Disease | rs116330805 | 0.0056 | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_026783 | p.Ser615Leu | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070286 | p.Leu221Gln | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_026776 | p.Leu107Arg | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_037140 | p.Gly413Val | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070305 | p.Asp561Ala | Non-Disease | - | - | - |
P17813 | non-pleiotropic | VAR_070293 | p.Cys363Ser | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_005193 | p.Gly52Val | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070299 | p.Arg529His | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070291 | p.Ala308Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P17813 | non-pleiotropic | VAR_070279 | p.Ala11Asp | Disease | - | - | Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300] |
P13929 | non-pleiotropic | VAR_020620 | p.Gly156Asp | Disease | rs121918403 | 0.0002 | Glycogen storage disease 13 (GSD13) [MIM:612932] |
P13929 | non-pleiotropic | VAR_020618 | p.Asn71Ser | Non-Disease | rs238238 | 0.4004 | - |
P13929 | non-pleiotropic | VAR_020621 | p.Gly374Glu | Disease | - | - | Glycogen storage disease 13 (GSD13) [MIM:612932] |
P13929 | non-pleiotropic | VAR_020619 | p.Val85Ala | Non-Disease | rs238239 | 0.3489 | - |
P22413 | pleiotropic | VAR_067914 | p.Gly586Arg | Disease | - | - | Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] |
P22413 | pleiotropic | VAR_070784 | p.Cys177Tyr | Disease | - | - | Cole disease (COLED) [MIM:615522] |
P22413 | pleiotropic | VAR_014144 | p.Thr779Pro | Non-Disease | rs1805138 | 0.006 | - |
P22413 | pleiotropic | VAR_070783 | p.Cys164Ser | Disease | - | - | Cole disease (COLED) [MIM:615522] |
P22413 | pleiotropic | VAR_067912 | p.Pro305Thr | Disease | - | - | Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] |
P22413 | pleiotropic | VAR_070782 | p.Cys149Ser | Disease | - | - | Cole disease (COLED) [MIM:615522] |
P22413 | pleiotropic | VAR_037432 | p.Asn179Ser | Non-Disease | rs2273411 | 0.0014 | - |
P22413 | pleiotropic | VAR_067913 | p.Asp538His | Disease | - | - | Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] |
P22413 | pleiotropic | VAR_037435 | p.Arg886Thr | Non-Disease | rs8192683 | 0.0009 | - |
P22413 | pleiotropic | VAR_018514 | p.Leu579Phe | Disease | - | - | Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] |
P22413 | pleiotropic | VAR_037433 | p.Gly342Val | Disease | - | - | Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] |
P22413 | pleiotropic | VAR_063720 | p.Tyr901Ser | Disease | rs121908249 | - | Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] |
P22413 | pleiotropic | VAR_063719 | p.Gly266Val | Disease | rs121908248 | - | Hypophosphatemic rickets, autosomal recessive, 2 (ARHR2) [MIM:613312] |
P22413 | pleiotropic | VAR_014143 | p.Ser287Phe | Disease | rs190947144 | 0.0004 | Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] |
P22413 | pleiotropic | VAR_014141 | p.Leu91Pro | Disease | - | - | Ossification of the posterior longitudinal ligament of the spine (OPLL) [MIM:602475] |
P22413 | pleiotropic | VAR_008873 | p.Lys173Gln | Non-Disease | rs1044498 | 0.2925 | - |
P22413 | pleiotropic | VAR_014142 | p.Tyr268His | Non-Disease | rs1805139 | 0.0005 | - |
P22413 | pleiotropic | VAR_067910 | p.Pro250Leu | Disease | - | - | Arterial calcification of infancy, generalized, 1 (GACI1) [MIM:208000] |