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 100 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P20711 non-pleiotropic VAR_019214 p.Glu61Asp Non-Disease rs11575292 0.0078 -
P20711 non-pleiotropic VAR_014789 p.Pro210Leu Non-Disease rs6262 0.011 -
P20711 non-pleiotropic VAR_019216 p.Met239Leu Non-Disease rs11575376 - -
P20711 non-pleiotropic VAR_019215 p.Met239Ile Non-Disease rs11575377 0.0008 -
O94830 non-pleiotropic VAR_036930 p.Thr186Met Non-Disease rs2306899 0.2204 -
O94830 non-pleiotropic VAR_069574 p.Asp660His Disease - - Spastic paraplegia 54, autosomal recessive (SPG54) [MIM:615033]
P39656 non-pleiotropic VAR_047911 p.Arg8Gly Non-Disease rs537816 0.0188 -
P39656 non-pleiotropic VAR_067544 p.Gly217Asp Disease - - Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]
Q16832 non-pleiotropic VAR_065719 p.Glu113Lys Disease - - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16832 non-pleiotropic VAR_063050 p.Thr713Ile Disease - - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16832 non-pleiotropic VAR_041500 p.Arg478Cys Non-Disease rs34869543 - -
Q16832 non-pleiotropic VAR_063051 p.Ile726Arg Disease - - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q16832 non-pleiotropic VAR_041499 p.Met441Ile Non-Disease rs34722354 0.0087 -
Q16832 non-pleiotropic VAR_041501 p.Val543Phe Non-Disease rs55973200 - -
Q16832 non-pleiotropic VAR_063052 p.Arg752Cys Disease - - Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) [MIM:271665]
Q96FC9 non-pleiotropic VAR_052176 p.Cys864Arg Non-Disease rs3893679 - -
Q96FC9 non-pleiotropic VAR_069099 p.Arg263Gln Disease - - Warsaw breakage syndrome (WBRS) [MIM:613398]
Q96FC9 non-pleiotropic VAR_052178 p.Trp966Cys Non-Disease rs14330 - -
Q96FC9 non-pleiotropic VAR_024810 p.Thr575Met Non-Disease rs17857386 - -
Q96FC9 non-pleiotropic VAR_052175 p.Arg856His Non-Disease rs1046457 0.4669 -
Q96FC9 non-pleiotropic VAR_052177 p.Cys951Arg Non-Disease rs1046458 0.4596 -
Q96FC9 non-pleiotropic VAR_024808 p.Ile39Ser Non-Disease rs1046454 - -
Q96FC9 non-pleiotropic VAR_024809 p.Gln567Glu Non-Disease rs2075322 0.3627 -
Q5T1V6 non-pleiotropic VAR_070198 p.Val367Gly Disease - - Orofaciodigital syndrome 5 (OFD5) [MIM:174300]
Q5T1V6 non-pleiotropic VAR_031424 p.Ile107Val Non-Disease rs3795634 0.1988 -
Q5T1V6 non-pleiotropic VAR_033001 p.Ser472Arg Non-Disease rs17854157 - -
Q5T1V6 non-pleiotropic VAR_070199 p.Gly534Arg Disease - - Orofaciodigital syndrome 5 (OFD5) [MIM:174300]
O75140 non-pleiotropic VAR_024338 p.Ser491Thr Non-Disease rs8138516 0.0321 -
O75140 non-pleiotropic VAR_069266 p.Ser1104Leu Disease - - Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364]
O75140 non-pleiotropic VAR_053954 p.Ser712Phe Non-Disease rs16989535 0.0216 -
O75140 non-pleiotropic VAR_069264 p.Arg485Gln Disease - - Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364]
O75140 non-pleiotropic VAR_069265 p.Ser1073Arg Disease - - Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364]
O75140 non-pleiotropic VAR_069263 p.Ala452Val Disease - - Epilepsy, familial focal, with variable foci (FFEVF) [MIM:604364]
O75140 non-pleiotropic VAR_053953 p.Ala641Val Non-Disease rs16989528 0.0308 -
P17661 pleiotropic VAR_042448 p.Ser2Ile Disease rs58999456 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042463 p.Ser460Ile Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042459 p.Thr442Ile Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_069192 p.Lys241Glu Non-Disease rs201945924 0.0002 -
P17661 pleiotropic VAR_042454 p.Arg350Pro Disease rs57965306 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]
P17661 pleiotropic VAR_069191 p.Asn116Ser Disease rs267607499 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_067207 p.Ser7Phe Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_007900 p.Ala337Pro Disease rs59962885 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042452 p.Glu245Asp Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042456 p.Ala357Pro Disease rs58898021 - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_007902 p.Asn393Ile Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042451 p.Ala213Val Non-Disease rs41272699 0.0056 -
P17661 pleiotropic VAR_067211 p.Glu401Lys Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_018773 p.Ile451Met Disease rs121913002 0.0022 Cardiomyopathy, dilated 1I (CMD1I) [MIM:604765]
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_042460 p.Lys449Met Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]
P17661 pleiotropic VAR_067208 p.Ser13Phe Disease - - Myopathy, myofibrillar, 1 (MFM1) [MIM:601419]