Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
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 | - |