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 58 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P56539 | pleiotropic | VAR_010743 | p.Cys72Trp | Non-Disease | rs116840776 | 0.0018 | - |
P56539 | pleiotropic | VAR_016207 | p.Leu87Pro | Disease | rs28936685 | - | Rippling muscle disease (RMD) [MIM:606072] |
P56539 | pleiotropic | VAR_043699 | p.Ser141Arg | Disease | - | - | Long QT syndrome 9 (LQT9) [MIM:611818] |
P56539 | pleiotropic | VAR_029545 | p.Arg126His | Non-Disease | - | - | - |
P56539 | pleiotropic | VAR_011512 | p.Arg27Gln | Disease | - | - | HyperCKmia (HYPCK) [MIM:123320] Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] Myopathy, distal, Tateyama type (MPDT) [MIM:614321] Rippling muscle disease (RMD) [MIM:606072] |
P56539 | pleiotropic | VAR_015374 | p.Asp28Glu | Disease | - | - | Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] Rippling muscle disease (RMD) [MIM:606072] |
P56539 | pleiotropic | VAR_043695 | p.Thr78Met | Disease | rs72546668 | 0.002 | Long QT syndrome 9 (LQT9) [MIM:611818] Sudden infant death syndrome (SIDS) [MIM:272120] |
P56539 | pleiotropic | VAR_021016 | p.Asn33Lys | Disease | rs1008642 | 0.371 | Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] Myopathy, distal, Tateyama type (MPDT) [MIM:614321] |
P56539 | pleiotropic | VAR_043696 | p.Leu79Arg | Disease | - | - | Long QT syndrome 9 (LQT9) [MIM:611818] Sudden infant death syndrome (SIDS) [MIM:272120] |
P56539 | pleiotropic | VAR_016208 | p.Ala93Thr | Disease | rs28936686 | 0.0002 | Rippling muscle disease (RMD) [MIM:606072] |
P56539 | pleiotropic | VAR_001403 | p.Pro105Leu | Disease | - | - | Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] Rippling muscle disease (RMD) [MIM:606072] |
P56539 | pleiotropic | VAR_043694 | p.Val14Leu | Disease | rs121909281 | 0.0012 | Sudden infant death syndrome (SIDS) [MIM:272120] |
P56539 | pleiotropic | VAR_011514 | p.Ala46Val | Disease | - | - | Rippling muscle disease (RMD) [MIM:606072] |
P22681 | non-pleiotropic | VAR_064332 | p.Gln367Pro | Disease | - | - | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] |
P22681 | non-pleiotropic | VAR_064334 | p.Asp390Tyr | Disease | - | - | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] |
P22681 | non-pleiotropic | VAR_064335 | p.Arg420Gln | Disease | - | - | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] |
P22681 | non-pleiotropic | VAR_057213 | p.Val904Ile | Non-Disease | rs17122769 | 0.0037 | - |
P22681 | non-pleiotropic | VAR_064333 | p.Lys382Glu | Disease | - | - | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] |
P22681 | non-pleiotropic | VAR_057211 | p.Leu620Phe | Non-Disease | rs2227988 | 0.0101 | - |
P22681 | non-pleiotropic | VAR_057212 | p.Pro782Leu | Non-Disease | rs2229073 | 0.0 | - |
Q14781 | non-pleiotropic | VAR_063751 | p.Pro98Leu | Disease | rs121908255 | - | 46,XY sex reversal 5 (SRXY5) [MIM:613080] |
Q14781 | non-pleiotropic | VAR_063752 | p.Arg443Pro | Disease | rs121908256 | - | 46,XY sex reversal 5 (SRXY5) [MIM:613080] |
Q9P2K1 | pleiotropic | VAR_062806 | p.Asp1556Val | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_062293 | p.Thr1114Met | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] Meckel syndrome 6 (MKS6) [MIM:612284] |
Q9P2K1 | pleiotropic | VAR_038489 | p.Glu376Ala | Non-Disease | rs16892095 | 0.1208 | - |
Q9P2K1 | pleiotropic | VAR_062805 | p.Lys800Glu | Non-Disease | - | - | - |
Q9P2K1 | pleiotropic | VAR_062804 | p.Pro721Ser | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_063804 | p.Thr1116Met | Disease | - | - | COACH syndrome (COACHS) [MIM:216360] |
Q9P2K1 | pleiotropic | VAR_055324 | p.Leu1551Pro | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_055323 | p.Arg1528Cys | Disease | - | - | COACH syndrome (COACHS) [MIM:216360] Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_069046 | p.Tyr1568His | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_055322 | p.Pro1122Ser | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_038490 | p.Val660Ile | Non-Disease | rs16892134 | 0.0023 | - |
Q9P2K1 | pleiotropic | VAR_068169 | p.Glu1126Lys | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_055321 | p.Gln1096His | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q9P2K1 | pleiotropic | VAR_069045 | p.Asn1520Ser | Disease | - | - | Joubert syndrome 9 (JBTS9) [MIM:612285] |
Q6UXH8 | non-pleiotropic | VAR_063748 | p.Arg158Cys | Disease | rs121908253 | 0.0002 | Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] |
Q6UXH8 | non-pleiotropic | VAR_063746 | p.Cys75Ser | Disease | rs121908250 | - | Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] |
Q6UXH8 | non-pleiotropic | VAR_063747 | p.Cys102Ser | Disease | rs121908251 | - | Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] |
Q6UXH8 | non-pleiotropic | VAR_063749 | p.Cys174Arg | Disease | rs121908254 | - | Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] |
Q6UXH8 | non-pleiotropic | VAR_048971 | p.Val193Gly | Non-Disease | rs11659589 | - | - |
Q6UXH8 | non-pleiotropic | VAR_063750 | p.Gly327Arg | Disease | rs121908252 | - | Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510] |
Q8IW40 | non-pleiotropic | VAR_068449 | p.His154Pro | Disease | - | - | Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679] |
Q9BSQ5 | non-pleiotropic | VAR_067353 | p.Leu229Gln | Disease | - | - | Cerebral cavernous malformations 2 (CCM2) [MIM:603284] |
Q9BSQ5 | non-pleiotropic | VAR_023576 | p.Val120Ile | Non-Disease | rs11552377 | 0.1162 | - |
Q9BSQ5 | non-pleiotropic | VAR_023577 | p.Leu198Arg | Disease | - | - | Cerebral cavernous malformations 2 (CCM2) [MIM:603284] |
Q9BSQ5 | non-pleiotropic | VAR_067352 | p.Gln215His | Disease | - | - | Cerebral cavernous malformations 2 (CCM2) [MIM:603284] |
Q9BSQ5 | non-pleiotropic | VAR_050768 | p.Ser289Asn | Non-Disease | rs2289366 | 0.0133 | - |
Q9BSQ5 | non-pleiotropic | VAR_023575 | p.Val53Ile | Non-Disease | rs2107732 | 0.0468 | - |
P48643 | non-pleiotropic | VAR_030658 | p.His147Arg | Disease | - | - | Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840] |