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 214 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P02545 | pleiotropic | VAR_009985 | p.Glu358Lys | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_039776 | p.Arg349Leu | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039788 | p.Arg541Ser | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_067697 | p.Arg225Gln | Disease | - | - | Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:181350] |
P02545 | pleiotropic | VAR_039768 | p.Leu215Pro | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_070175 | p.Glu138Lys | Disease | - | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |
P02545 | pleiotropic | VAR_039777 | p.Arg377Leu | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001] |
P02545 | pleiotropic | VAR_039763 | p.Arg190Gln | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039772 | p.Leu248Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_017660 | p.Glu161Lys | Disease | rs28933093 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039771 | p.Gly232Glu | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039767 | p.Glu203Lys | Disease | rs61195471 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_064968 | p.Ser303Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_063593 | p.Arg455Pro | Disease | - | - | Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_039745 | p.Thr10Ile | Non-Disease | rs57077886 | - | - |
P02545 | pleiotropic | VAR_009978 | p.Glu203Gly | Disease | rs28933092 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_039785 | p.Thr528Arg | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009972 | p.Arg50Pro | Disease | rs60695352 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] |
P02545 | pleiotropic | VAR_017658 | p.Leu140Arg | Disease | rs60652225 | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |
P02545 | pleiotropic | VAR_039748 | p.Arg28Trp | Disease | rs59914820 | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_064973 | p.Asp461Tyr | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_009987 | p.Arg386Lys | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039762 | p.Thr150Pro | Disease | rs58917027 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_064962 | p.Arg189Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039787 | p.Arg541His | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039775 | p.Glu317Lys | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_070182 | p.Arg471His | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_009986 | p.Met371Lys | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_034710 | p.Lys542Asn | Disease | - | - | Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] |
P02545 | pleiotropic | VAR_064055 | p.Leu59Arg | Disease | - | - | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] |
P02545 | pleiotropic | VAR_039752 | p.Leu35Val | Disease | rs56694480 | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039791 | p.Arg624His | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039782 | p.Asn456Lys | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_034706 | p.Arg60Gly | Disease | rs28928900 | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_039774 | p.Tyr267Cys | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_039751 | p.Glu33Gly | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_016913 | p.Arg133Leu | Disease | - | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_064965 | p.Ser268Pro | Disease | - | - | Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] |
P02545 | pleiotropic | VAR_070176 | p.Arg166Pro | Disease | - | - | Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] |
P02545 | pleiotropic | VAR_009993 | p.Arg482Trp | Disease | - | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
P02545 | pleiotropic | VAR_039755 | p.Arg62Gly | Disease | rs56793579 | - | Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] |
Q03252 | non-pleiotropic | VAR_031063 | p.Arg215Gln | Disease | rs61726481 | - | Partial acquired lipodystrophy (APLD) [MIM:608709] |
Q03252 | non-pleiotropic | VAR_031064 | p.Ala407Thr | Disease | rs57521499 | - | Partial acquired lipodystrophy (APLD) [MIM:608709] |
O60663 | non-pleiotropic | VAR_015201 | p.Cys59Arg | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015212 | p.Cys146Tyr | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_004199 | p.Cys165Trp | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_004202 | p.Ser241Pro | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015207 | p.Cys83Tyr | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_004204 | p.Ala253Val | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |
O60663 | non-pleiotropic | VAR_015210 | p.Cys143Ser | Disease | - | - | Nail-patella syndrome (NPS) [MIM:161200] |