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 213 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02545 | pleiotropic | VAR_070174 | p.Arg101Pro | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_017663 | p.Arg527Cys | Disease | - | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |
P02545 | pleiotropic | VAR_009984 | p.Arg343Gln | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009989 | p.Gly465Asp | Disease | - | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_009982 | p.Gln294Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_064971 | p.Gly449Asp | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009977 | p.Asn195Lys | Disease | rs28933091 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_034707 | p.Ser143Phe | Disease | rs58912633 | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |
P02545 | pleiotropic | VAR_009998 | p.Arg582His | Disease | rs57830985 | 0.0002 | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_063591 | p.Leu380Ser | Disease | - | - | Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_009995 | p.Arg527Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_039747 | p.Arg25Pro | Disease | rs61578124 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_063592 | p.Arg453Pro | Disease | - | - | Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_039753 | p.Ala43Thr | Disease | rs60446065 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_070181 | p.Arg439Cys | Disease | - | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_064970 | p.Glu361Lys | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009992 | p.Arg482Gln | Disease | rs11575937 | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_009997 | p.Leu530Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009974 | p.Ile63Ser | Disease | rs57793737 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_063590 | p.Leu302Pro | Disease | - | - | Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_070179 | p.Ala318Thr | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039783 | p.Tyr481His | Disease | - | - | Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001] |
P02545 | pleiotropic | VAR_016205 | p.Arg377His | Disease | - | - | Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001] |
P02545 | pleiotropic | VAR_039769 | p.His222Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_067257 | p.Leu92Phe | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039778 | p.Arg399Cys | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_039757 | p.Glu65Gly | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_017664 | p.Gly608Ser | Disease | - | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |
P02545 | pleiotropic | VAR_063589 | p.Arg249Trp | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_009980 | p.Arg249Gln | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_064964 | p.Phe206Leu | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_017656 | p.Ala57Pro | Disease | rs28928903 | - | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] |
P02545 | pleiotropic | VAR_017661 | p.Arg298Cys | Disease | - | - | Charcot-Marie-Tooth disease 2B1 (CMT2B1) [MIM:605588] |
P02545 | pleiotropic | VAR_039781 | p.Asn456Ile | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_018727 | p.Arg527His | Disease | - | - | Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] |
P02545 | pleiotropic | VAR_009996 | p.Thr528Lys | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_034709 | p.Ala529Val | Disease | - | - | Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] |
P02545 | pleiotropic | VAR_039746 | p.Arg25Gly | Disease | rs58327533 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_067258 | p.Gly523Arg | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_064974 | p.Trp467Arg | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039761 | p.Ser143Pro | Disease | rs61661343 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_063594 | p.Asn456Asp | Disease | - | - | Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_064975 | p.Arg541Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_017657 | p.Arg133Pro | Disease | rs60864230 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_064972 | p.Leu454Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039756 | p.Ile63Asn | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009991 | p.Arg482Leu | Disease | - | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_009971 | p.Tyr45Cys | Disease | rs58436778 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039760 | p.Leu140Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_017659 | p.Glu145Lys | Disease | rs60310264 | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |