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 10 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q4G176 non-pleiotropic VAR_066505 p.Pro243Leu Disease rs140986055 0.0004 Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265]
O60488 non-pleiotropic VAR_013180 p.Arg570Ser Disease - - Mental retardation, X-linked 63 (MRX63) [MIM:300387]
P62736 pleiotropic VAR_011944 p.Thr196Ser Non-Disease rs1803028 - -
P62736 pleiotropic VAR_045922 p.Arg292Gly Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_045917 p.Tyr135His Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_045921 p.Arg258His Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_062577 p.Arg39His Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_062578 p.Tyr145Cys Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_062580 p.Arg212Gln Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_062579 p.Arg185Gln Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_045915 p.Asn117Thr Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_045916 p.Arg118Gln Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_011946 p.His373Pro Non-Disease rs1062398 - -
P62736 pleiotropic VAR_045918 p.Arg149Cys Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_062581 p.Thr326Asn Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_045923 p.Thr353Asn Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_045919 p.Val154Ala Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P62736 pleiotropic VAR_011945 p.Thr320Ala Non-Disease rs1803027 - -
P62736 pleiotropic VAR_064516 p.Arg179His Disease - - Moyamoya disease 5 (MYMY5) [MIM:614042]
Multisystemic smooth muscle dysfunction syndrome (MSMDYS) [MIM:613834]
P62736 pleiotropic VAR_045920 p.Arg258Cys Disease - - Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788]
P60709 pleiotropic VAR_067812 p.Arg196Cys Disease rs281875333 - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P60709 pleiotropic VAR_048185 p.Pro243Leu Non-Disease rs11546899 - -
P60709 pleiotropic VAR_030026 p.Arg183Trp Disease - - Dystonia, juvenile-onset (DYTJ) [MIM:607371]
P60709 pleiotropic VAR_067811 p.Leu65Val Disease rs281875332 - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P60709 pleiotropic VAR_067810 p.Asn12Asp Disease rs281875331 - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P60709 pleiotropic VAR_067813 p.Arg196His Disease rs281875334 - Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310]
P68032 pleiotropic VAR_045925 p.Arg97Cys Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032 pleiotropic VAR_012857 p.Glu101Lys Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032 pleiotropic VAR_012862 p.Glu363Gly Disease - - Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
P68032 pleiotropic VAR_012859 p.Ala297Ser Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032 pleiotropic VAR_012861 p.Ala333Pro Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032 pleiotropic VAR_046502 p.Met125Val Disease - - Atrial septal defect 5 (ASD5) [MIM:612794]
P68032 pleiotropic VAR_012858 p.Pro166Ala Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032 pleiotropic VAR_046504 p.Met307Leu Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032 pleiotropic VAR_012860 p.Arg314His Disease - - Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424]
P68032 pleiotropic VAR_046503 p.Tyr168Cys Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P68032 pleiotropic VAR_045924 p.His90Tyr Disease - - Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098]
P63261 pleiotropic VAR_032438 p.Pro332Ala Disease - - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261 pleiotropic VAR_067816 p.Ser155Phe Disease rs281875326 - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261 pleiotropic VAR_032437 p.Thr278Ile Disease rs28999112 - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261 pleiotropic VAR_055482 p.Pro243Leu Non-Disease rs11546899 - -
P63261 pleiotropic VAR_032434 p.Thr89Ile Disease rs28999111 - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261 pleiotropic VAR_067824 p.Lys118Asn Disease rs267606630 - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261 pleiotropic VAR_067825 p.Ile122Val Disease rs281875330 - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261 pleiotropic VAR_048186 p.Thr160Ile Non-Disease rs11549206 - -
P63261 pleiotropic VAR_067819 p.Arg256Trp Disease rs281875329 - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261 pleiotropic VAR_067826 p.Glu241Lys Disease rs267606631 - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]
P63261 pleiotropic VAR_067815 p.Ala135Val Disease rs11549190 - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261 pleiotropic VAR_067818 p.Arg254Trp Disease rs281875328 - Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583]
P63261 pleiotropic VAR_032439 p.Val370Ala Disease - - Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717]