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 216 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P98164 non-pleiotropic VAR_029182 p.Asp1279Ala Non-Disease rs17848149 0.0335 -
P98164 non-pleiotropic VAR_037010 p.Gly669Asp Non-Disease rs34291900 0.0161 -
P98164 non-pleiotropic VAR_005422 p.Ala2872Thr Non-Disease rs2228171 0.3232 -
P98164 non-pleiotropic VAR_037009 p.Asn83Ser Non-Disease rs2229263 0.309 -
O75096 pleiotropic VAR_066631 p.Trp1186Ser Disease - - Sclerosteosis 2 (SOST2) [MIM:614305]
O75096 pleiotropic VAR_058290 p.Leu314Ser Non-Disease rs7926667 0.0455 -
O75096 pleiotropic VAR_063780 p.Leu473Phe Disease - - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096 pleiotropic VAR_063778 p.Asp449Asn Disease - - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096 pleiotropic VAR_057957 p.Arg1646Gln Non-Disease rs3816614 0.4215 -
O75096 pleiotropic VAR_057956 p.Ser1554Gly Non-Disease rs2306029 0.3522 -
O75096 pleiotropic VAR_058292 p.Ala1238Thr Non-Disease rs2306031 - -
O75096 pleiotropic VAR_066630 p.Arg1170Trp Disease - - Sclerosteosis 2 (SOST2) [MIM:614305]
O75096 pleiotropic VAR_063782 p.Cys1017Arg Disease - - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096 pleiotropic VAR_063781 p.Asp529Asn Disease - - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096 pleiotropic VAR_058291 p.Ala1203Val Non-Disease rs2306033 0.2456 -
O75096 pleiotropic VAR_063779 p.Thr461Pro Disease - - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096 pleiotropic VAR_063776 p.Asp137Asn Disease - - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096 pleiotropic VAR_063777 p.Cys160Tyr Disease - - Cenani-Lenz syndactyly syndrome (CLSS) [MIM:212780]
O75096 pleiotropic VAR_057955 p.Ile1086Val Non-Disease rs6485702 0.4298 -
O75197 pleiotropic VAR_063944 p.Arg154Met Disease - - High bone mass trait (HBM) [MIM:601884]
O75197 pleiotropic VAR_021812 p.Ala242Thr Disease - - Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]
Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
Van Buchem disease 2 (VBCH2) [MIM:607636]
O75197 pleiotropic VAR_021814 p.Arg494Gln Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063965 p.Asn531Ile Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063962 p.Asp511Ala Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_021815 p.Arg570Trp Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_021807 p.Asp111Tyr Disease - - Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
O75197 pleiotropic VAR_021224 p.Glu1367Lys Disease rs28939709 - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063956 p.Glu441Lys Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063960 p.Trp478Arg Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063966 p.Thr535Met Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063975 p.Asp1099Tyr Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_021808 p.Gly171Arg Disease - - Osteopetrosis, autosomal dominant 1 (OPTA1) [MIM:607634]
O75197 pleiotropic VAR_071014 p.Gln816Pro Non-Disease - - -
O75197 pleiotropic VAR_063952 p.Ala400Glu Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_021811 p.Ala214Val Disease - - Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]
O75197 pleiotropic VAR_063961 p.Trp504Cys Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_071012 p.Ala422Thr Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063963 p.Gly520Val Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063964 p.Ala522Thr Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_063945 p.Asp203Asn Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_021817 p.Ala1330Val Non-Disease rs3736228 0.1354 -
O75197 pleiotropic VAR_063942 p.Ala97Val Non-Disease rs143433231 0.0014 -
O75197 pleiotropic VAR_063950 p.Ser356Leu Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063948 p.Arg348Trp Disease - - Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770]
O75197 pleiotropic VAR_063977 p.Asn1121Asp Disease rs80358317 0.003 Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_021806 p.Gln89Arg Non-Disease rs41494349 0.0271 -
O75197 pleiotropic VAR_018466 p.Tyr1168His Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]
O75197 pleiotropic VAR_021810 p.Ala214Thr Disease - - Endosteal hyperostosis, Worth type (WENHY) [MIM:144750]
O75197 pleiotropic VAR_063981 p.Thr1540Met Non-Disease rs141407040 0.0014 -
O75197 pleiotropic VAR_063967 p.Gly550Arg Disease - - Vitreoretinopathy, exudative 4 (EVR4) [MIM:601813]