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 168 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P29033 | pleiotropic | VAR_015942 | p.Arg165Trp | Non-Disease | - | - | - |
P29033 | pleiotropic | VAR_032751 | p.Gly59Ser | Disease | - | - | Bart-Pumphrey syndrome (BPS) [MIM:149200] |
P29033 | pleiotropic | VAR_015454 | p.Ser17Phe | Disease | rs28929485 | - | Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] |
P29033 | pleiotropic | VAR_015940 | p.Arg143Gln | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
P29033 | pleiotropic | VAR_069520 | p.Gly130Ala | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_002140 | p.Arg75Trp | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] |
P29033 | pleiotropic | VAR_069521 | p.Gly130Asp | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_015937 | p.Leu90Pro | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_015936 | p.Arg75Gln | Disease | - | - | Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] |
P29033 | pleiotropic | VAR_002144 | p.Val95Met | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_069522 | p.Gly130Val | Disease | - | - | Vohwinkel syndrome (VS) [MIM:124500] |
P29033 | pleiotropic | VAR_032752 | p.Asp179Asn | Disease | rs28931595 | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
P29033 | pleiotropic | VAR_002139 | p.Val37Ile | Disease | rs72474224 | 0.0154 | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_069519 | p.Asp117His | Non-Disease | - | - | - |
P29033 | pleiotropic | VAR_069524 | p.Ala148Pro | Non-Disease | - | - | - |
P29033 | pleiotropic | VAR_015459 | p.Thr123Asn | Non-Disease | rs111033188 | 0.0028 | - |
P29033 | pleiotropic | VAR_002146 | p.Gly160Ser | Non-Disease | rs34988750 | 0.0 | - |
P29033 | pleiotropic | VAR_023616 | p.Ile203Lys | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_060798 | p.Asp46Glu | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
P29033 | pleiotropic | VAR_023614 | p.Arg184Gln | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
P29033 | pleiotropic | VAR_023608 | p.Gln80Lys | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_015458 | p.Thr86Arg | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_023617 | p.Leu214Pro | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_023607 | p.Leu79Pro | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_002137 | p.Val27Ile | Non-Disease | rs2274084 | 0.1038 | - |
P29033 | pleiotropic | VAR_023613 | p.Val178Ala | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_009969 | p.Arg184Trp | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_009966 | p.Glu114Gly | Non-Disease | rs2274083 | 0.0528 | - |
P29033 | pleiotropic | VAR_060799 | p.His73Arg | Disease | - | - | Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] |
P29033 | pleiotropic | VAR_023611 | p.Glu129Lys | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_015460 | p.Arg143Trp | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_015943 | p.Arg184Pro | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_002141 | p.Trp77Arg | Disease | - | - | Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] |
P29033 | pleiotropic | VAR_009970 | p.Ile203Thr | Non-Disease | rs76838169 | 0.0147 | - |
P29033 | pleiotropic | VAR_009968 | p.Cys169Tyr | Non-Disease | - | - | - |
P29033 | pleiotropic | VAR_009965 | p.Gly59Ala | Disease | - | - | Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] |
P29033 | pleiotropic | VAR_009967 | p.Val153Ile | Non-Disease | rs111033186 | 0.0018 | - |
P29033 | pleiotropic | VAR_015461 | p.Phe191Leu | Non-Disease | - | - | - |
P29033 | pleiotropic | VAR_015939 | p.Arg127His | Non-Disease | rs111033196 | 0.0023 | - |
P29033 | pleiotropic | VAR_032749 | p.Trp44Ser | Disease | - | - | Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] |
O75712 | pleiotropic | VAR_002149 | p.Cys86Ser | Disease | - | - | Erythrokeratodermia variabilis (EKV) [MIM:133200] |
O75712 | pleiotropic | VAR_002147 | p.Gly12Asp | Disease | - | - | Erythrokeratodermia variabilis (EKV) [MIM:133200] |
O75712 | pleiotropic | VAR_015086 | p.Phe137Leu | Disease | - | - | Erythrokeratodermia variabilis (EKV) [MIM:133200] |
O75712 | pleiotropic | VAR_015085 | p.Arg42Pro | Disease | - | - | Erythrokeratodermia variabilis (EKV) [MIM:133200] |
O75712 | pleiotropic | VAR_011978 | p.Arg32Trp | Non-Disease | rs1805063 | 0.0147 | - |
O75712 | pleiotropic | VAR_002148 | p.Gly12Arg | Disease | - | - | Erythrokeratodermia variabilis (EKV) [MIM:133200] |
O75712 | pleiotropic | VAR_015087 | p.Ile141Val | Disease | - | - | Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644] |
O75712 | pleiotropic | VAR_002150 | p.Glu183Lys | Disease | rs74315318 | 0.001 | Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644] |
O75712 | pleiotropic | VAR_022423 | p.Val200Ile | Non-Disease | rs61734064 | 0.034 | - |
Q9NTQ9 | non-pleiotropic | VAR_015091 | p.Cys169Trp | Non-Disease | rs79193415 | 0.0317 | - |