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 105 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9UI46 non-pleiotropic VAR_016774 p.Ala8Ser Non-Disease rs11547035 0.0376 -
Q9UI46 non-pleiotropic VAR_016775 p.Gly515Ser Disease - - Kartagener syndrome (KTGS) [MIM:244400]
Q9UI46 non-pleiotropic VAR_033876 p.Ala60Val Non-Disease rs16931549 0.0248 -
O75190 non-pleiotropic VAR_067833 p.Phe89Ile Disease - - Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511]
O75190 non-pleiotropic VAR_067835 p.Pro96Arg Disease - - Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511]
O75190 non-pleiotropic VAR_067834 p.Phe93Leu Disease - - Limb-girdle muscular dystrophy 1E (LGMD1E) [MIM:603511]
Q9H3Z4 non-pleiotropic VAR_066555 p.Leu115Arg Disease - - Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350]
Q4LDG9 non-pleiotropic VAR_065739 p.Asn150Ser Disease - - Ciliary dyskinesia, primary, 16 (CILD16) [MIM:614017]
O00429 non-pleiotropic VAR_063704 p.Ala395Asp Disease - - Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) [MIM:614388]
O00429 non-pleiotropic VAR_022446 p.Ser71Thr Non-Disease rs1064610 - -
O00429 non-pleiotropic VAR_030489 p.Glu426Asp Non-Disease rs2389105 - -
P50570 pleiotropic VAR_031967 p.Lys562Glu Disease - - Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) [MIM:606482]
P50570 pleiotropic VAR_068373 p.Pro627Arg Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_068366 p.Arg522Cys Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_062574 p.Gly537Cys Disease - - Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]
P50570 pleiotropic VAR_068367 p.Arg522His Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_062576 p.Glu650Lys Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_068369 p.Glu560Lys Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_062575 p.Leu570His Disease - - Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]
P50570 pleiotropic VAR_031965 p.Arg465Trp Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_068370 p.Ala618Asp Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_068425 p.Gly358Arg Disease - - Charcot-Marie-Tooth disease 2M (CMT2M) [MIM:606482]
P50570 pleiotropic VAR_068372 p.Pro627His Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_031963 p.Arg369Gln Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_031964 p.Arg369Trp Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_039043 p.Ser619Trp Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_039042 p.Ser619Leu Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_068365 p.Glu368Gln Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_070163 p.Phe379Val Disease - - Lethal congenital contracture syndrome 5 (LCCS5) [MIM:615368]
P50570 pleiotropic VAR_031962 p.Glu368Lys Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_039041 p.Ala618Thr Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_068371 p.Leu621Pro Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
P50570 pleiotropic VAR_031961 p.Pro263Leu Non-Disease rs3745674 0.0037 -
P50570 pleiotropic VAR_068368 p.Arg523Gly Disease - - Myopathy, centronuclear, 1 (CNM1) [MIM:160150]
Q9UBC3 non-pleiotropic VAR_011508 p.Val699Gly Disease - - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011499 p.Ala603Thr Disease rs121908943 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_022580 p.Leu664Pro Disease - - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011504 p.Val818Met Disease rs121908940 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011509 p.Ala766Pro Disease - - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011501 p.Val726Gly Disease rs121908941 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011500 p.Gly663Ser Disease rs121908942 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011506 p.Ala585Val Disease - - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_022581 p.Arg840Gln Disease rs121908946 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_022579 p.Ser270Pro Disease rs121908947 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011510 p.His814Arg Disease - - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_033885 p.Arg54Pro Non-Disease rs17123590 - -
Q9UBC3 non-pleiotropic VAR_011503 p.Asp817Gly Disease rs121908939 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UBC3 non-pleiotropic VAR_011507 p.Val606Ala Disease rs146981624 - Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]
Q9UPQ8 non-pleiotropic VAR_032852 p.Tyr441Ser Disease - - Congenital disorder of glycosylation 1M (CDG1M) [MIM:610768]
Q9UPQ8 non-pleiotropic VAR_049709 p.Asp224Val Non-Disease rs17485436 0.0009 -