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 170 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P16278 | pleiotropic | VAR_008682 | p.Lys578Arg | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062354 | p.Gln255His | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_013552 | p.Asn484Lys | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_003337 | p.Trp509Cys | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_026133 | p.Leu436Phe | Non-Disease | rs34421970 | 0.006 | - |
P16278 | pleiotropic | VAR_008673 | p.Thr82Met | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_062366 | p.Asp441Asn | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062345 | p.Pro136Ser | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062370 | p.Pro597Ser | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008671 | p.Pro10Leu | Disease | rs7637099 | 0.4319 | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_003333 | p.Trp273Leu | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_062362 | p.Pro397Ala | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_003331 | p.Gly123Arg | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008678 | p.Arg482Cys | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_062348 | p.Asp151Val | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062360 | p.Lys346Asn | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062352 | p.Asp198Tyr | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_003329 | p.Arg49Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062365 | p.Leu422Arg | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_037944 | p.Pro549Leu | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062350 | p.Gln184Arg | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062364 | p.Thr420Pro | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_013548 | p.His281Tyr | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_062340 | p.Arg49His | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_013551 | p.Gly438Glu | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_008672 | p.Arg59His | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062361 | p.Tyr347Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_013547 | p.Tyr270Asp | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_062351 | p.Gly190Asp | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008677 | p.Val240Met | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008683 | p.Arg590His | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_003336 | p.Arg482His | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_013549 | p.Asp332Asn | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_053875 | p.Arg109Trp | Non-Disease | rs35289681 | 0.0124 | - |
P16278 | pleiotropic | VAR_013542 | p.Arg201His | Disease | - | - | GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_037940 | p.Leu162Ser | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008685 | p.Tyr591Asn | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008679 | p.Asp491Asn | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062358 | p.Asp332Glu | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062353 | p.Tyr199Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062349 | p.Leu173Pro | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_003335 | p.Arg457Gln | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_062347 | p.Ser149Phe | Disease | - | - | Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] |
P16278 | pleiotropic | VAR_013541 | p.Arg148Ser | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_062346 | p.Arg148Cys | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_013555 | p.Gly579Asp | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GM1-gangliosidosis 2 (GM1G2) [MIM:230600] |
P16278 | pleiotropic | VAR_008675 | p.Arg121Ser | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_013545 | p.Pro263Ser | Disease | - | - | GM1-gangliosidosis 3 (GM1G3) [MIM:230650] |
P16278 | pleiotropic | VAR_062357 | p.Thr329Ile | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |
P16278 | pleiotropic | VAR_008684 | p.Tyr591Cys | Disease | - | - | GM1-gangliosidosis 1 (GM1G1) [MIM:230500] |