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 172 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P00367 | non-pleiotropic | VAR_008669 | p.Ser501Pro | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_016765 | p.Arg322His | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_016763 | p.Tyr319Cys | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_008668 | p.Gly499Ser | Disease | - | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P00367 | non-pleiotropic | VAR_016761 | p.Arg274Cys | Disease | rs56275071 | - | Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762] |
P15104 | non-pleiotropic | VAR_026561 | p.Arg341Cys | Disease | - | - | Congenital systemic glutamine deficiency (CSGD) [MIM:610015] |
P15104 | non-pleiotropic | VAR_026560 | p.Arg324Cys | Disease | - | - | Congenital systemic glutamine deficiency (CSGD) [MIM:610015] |
Q8IVS8 | non-pleiotropic | VAR_032285 | p.Leu170Val | Non-Disease | rs35130772 | 0.0381 | - |
Q8IVS8 | non-pleiotropic | VAR_065909 | p.Phe493Cys | Disease | - | - | D-glyceric aciduria (D-GA) [MIM:220120] |
Q8IVS8 | non-pleiotropic | VAR_032286 | p.Thr394Ile | Non-Disease | rs9813489 | 0.011 | - |
Q8IVS8 | non-pleiotropic | VAR_061205 | p.Arg27Cys | Non-Disease | rs34502608 | 0.0005 | - |
P17900 | non-pleiotropic | VAR_013830 | p.Ala19Thr | Non-Disease | rs1048719 | 0.0849 | - |
P17900 | non-pleiotropic | VAR_036893 | p.Met69Val | Non-Disease | rs153478 | 0.185 | - |
P17900 | non-pleiotropic | VAR_006947 | p.Cys138Arg | Disease | - | - | GM2-gangliosidosis AB (GM2GAB) [MIM:272750] |
P17900 | non-pleiotropic | VAR_036892 | p.Ile59Val | Non-Disease | rs153477 | 0.3618 | - |
P17900 | non-pleiotropic | VAR_011698 | p.Arg169Pro | Disease | - | - | GM2-gangliosidosis AB (GM2GAB) [MIM:272750] |
Q96IJ6 | non-pleiotropic | VAR_070204 | p.Thr334Met | Disease | - | - | Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] |
Q96IJ6 | non-pleiotropic | VAR_042435 | p.Val156Ala | Non-Disease | rs13396066 | - | - |
Q96IJ6 | non-pleiotropic | VAR_042434 | p.Ser21Phe | Non-Disease | rs34218609 | - | - |
Q96IJ6 | non-pleiotropic | VAR_070203 | p.Gly182Asp | Disease | - | - | Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] |
Q96IJ6 | non-pleiotropic | VAR_070207 | p.Asn401Thr | Disease | - | - | Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] |
Q96IJ6 | non-pleiotropic | VAR_070206 | p.Arg390Pro | Disease | - | - | Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] |
Q96IJ6 | non-pleiotropic | VAR_070205 | p.Thr334Pro | Disease | - | - | Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510] |
P29992 | pleiotropic | VAR_070170 | p.Phe341Leu | Disease | - | - | Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] |
P29992 | pleiotropic | VAR_070169 | p.Ser211Trp | Disease | - | - | Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] |
P29992 | pleiotropic | VAR_070167 | p.Arg181Gln | Disease | - | - | Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] |
P29992 | pleiotropic | VAR_070166 | p.Leu135Gln | Disease | - | - | Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981] |
P29992 | pleiotropic | VAR_070165 | p.Arg60Cys | Disease | - | - | Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] |
P08754 | non-pleiotropic | VAR_068558 | p.Gly40Arg | Disease | - | - | Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] |
P38405 | non-pleiotropic | VAR_069332 | p.Glu155Lys | Disease | - | - | Dystonia 25 (DYT25) [MIM:615073] |
P38405 | non-pleiotropic | VAR_069329 | p.Val16Phe | Non-Disease | - | - | - |
P38405 | non-pleiotropic | VAR_069331 | p.Val137Met | Disease | - | - | Dystonia 25 (DYT25) [MIM:615073] |
P09471 | non-pleiotropic | VAR_070864 | p.Asp174Gly | Disease | - | - | Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] |
P09471 | non-pleiotropic | VAR_070867 | p.Ile279Asn | Disease | - | - | Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] |
P09471 | non-pleiotropic | VAR_070866 | p.Gly203Arg | Disease | - | - | Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] |
P63092 | pleiotropic | VAR_017848 | p.Arg231His | Disease | - | - | Albright hereditary osteodystrophy (AHO) [MIM:103580] |
P63092 | pleiotropic | VAR_017844 | p.Arg201Gly | Disease | - | - | McCune-Albright syndrome (MAS) [MIM:174800] |
P63092 | pleiotropic | VAR_031877 | p.Glu259Val | Disease | - | - | Albright hereditary osteodystrophy (AHO) [MIM:103580] |
P63092 | pleiotropic | VAR_031880 | p.Trp281Arg | Disease | - | - | Progressive osseous heteroplasia (POH) [MIM:166350] |
P63092 | pleiotropic | VAR_003442 | p.Arg201Cys | Disease | rs11554273 | - | McCune-Albright syndrome (MAS) [MIM:174800] |
P63092 | pleiotropic | VAR_017843 | p.Pro115Leu | Disease | - | - | Albright hereditary osteodystrophy (AHO) [MIM:103580] |
P63092 | pleiotropic | VAR_017846 | p.Arg201Ser | Disease | - | - | ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080] |
P63092 | pleiotropic | VAR_017850 | p.Ala366Ser | Disease | - | - | Albright hereditary osteodystrophy (AHO) [MIM:103580] |
P63092 | pleiotropic | VAR_015388 | p.Arg258Trp | Disease | - | - | Albright hereditary osteodystrophy (AHO) [MIM:103580] |
P63092 | pleiotropic | VAR_066388 | p.Glu392Lys | Disease | - | - | Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] |
P63092 | pleiotropic | VAR_049358 | p.Arg380Leu | Non-Disease | rs8986 | - | - |
P63092 | pleiotropic | VAR_031879 | p.Arg280Lys | Disease | - | - | Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] |
P63092 | pleiotropic | VAR_066387 | p.Leu388Arg | Disease | - | - | Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] |
P63092 | pleiotropic | VAR_031876 | p.Phe246Ser | Disease | - | - | Albright hereditary osteodystrophy (AHO) [MIM:103580] |
P63092 | pleiotropic | VAR_031874 | p.Val159Met | Disease | - | - | Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] |