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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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 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]