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 57 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P41180 | pleiotropic | VAR_020220 | p.Pro951Thr | Non-Disease | rs4987051 | - | - |
P41180 | pleiotropic | VAR_058046 | p.Leu11Ser | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_003597 | p.Cys582Tyr | Disease | - | - | Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] |
P41180 | pleiotropic | VAR_060206 | p.Glu354Ala | Disease | - | - | Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] |
P41180 | pleiotropic | VAR_003600 | p.Phe806Ser | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_058054 | p.Cys131Trp | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_060210 | p.Ala988Val | Disease | - | - | Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] |
P41180 | pleiotropic | VAR_058080 | p.Phe788Leu | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_058082 | p.Ala843Glu | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_003596 | p.Glu297Lys | Disease | - | - | Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058081 | p.Ser820Phe | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_060208 | p.Arg898Gln | Disease | - | - | Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899] |
P41180 | pleiotropic | VAR_058076 | p.Val728Phe | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_003586 | p.Arg62Met | Disease | - | - | Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058071 | p.Phe612Ser | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_065494 | p.Val697Met | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_003593 | p.Arg185Gln | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058084 | p.Arg886Trp | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058061 | p.Glu250Lys | Non-Disease | rs62269092 | 0.0005 | - |
P41180 | pleiotropic | VAR_058065 | p.Gly509Arg | Disease | rs193922423 | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_003592 | p.Leu174Arg | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_003591 | p.Gly143Glu | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_003601 | p.Cys851Ser | Non-Disease | - | - | - |
P41180 | pleiotropic | VAR_003590 | p.Thr138Met | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058078 | p.Leu773Arg | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_058050 | p.Lys47Asn | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_058057 | p.Phe180Cys | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_014451 | p.Gln1011Glu | Non-Disease | rs1801726 | 0.0759 | - |
P41180 | pleiotropic | VAR_058070 | p.Glu604Lys | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_014450 | p.Ala986Ser | Non-Disease | rs1801725 | 0.0762 | - |
P41180 | pleiotropic | VAR_003595 | p.Arg227Gln | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058079 | p.Phe788Cys | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_058067 | p.Ile555Val | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_020221 | p.Arg990Gly | Non-Disease | rs1042636 | 0.2071 | - |
P41180 | pleiotropic | VAR_058062 | p.Ser271Phe | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058063 | p.Gly397Arg | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058069 | p.Cys582Phe | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058064 | p.Arg465Gln | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P41180 | pleiotropic | VAR_058053 | p.Phe128Leu | Disease | - | - | Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] |
P41180 | pleiotropic | VAR_058056 | p.Ser171Asn | Disease | - | - | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] |
P56539 | pleiotropic | VAR_011513 | p.Ala46Thr | Disease | - | - | Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] Rippling muscle disease (RMD) [MIM:606072] |
P56539 | pleiotropic | VAR_010742 | p.Val57Met | Disease | - | - | HyperCKmia (HYPCK) [MIM:123320] |
P56539 | pleiotropic | VAR_021018 | p.Thr64Pro | Disease | - | - | Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] |
P56539 | pleiotropic | VAR_029543 | p.Thr64Ser | Disease | - | - | Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600] |
P56539 | pleiotropic | VAR_021017 | p.Val44Glu | Disease | - | - | Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801] |
P56539 | pleiotropic | VAR_043698 | p.Phe97Cys | Disease | - | - | Long QT syndrome 9 (LQT9) [MIM:611818] |
P56539 | pleiotropic | VAR_043697 | p.Ala85Thr | Disease | - | - | Long QT syndrome 9 (LQT9) [MIM:611818] |
P56539 | pleiotropic | VAR_029541 | p.Ser53Gly | Disease | - | - | Rippling muscle disease (RMD) [MIM:606072] |
P56539 | pleiotropic | VAR_029540 | p.Pro29Leu | Disease | - | - | HyperCKmia (HYPCK) [MIM:123320] |
P56539 | pleiotropic | VAR_029542 | p.Gly56Ser | Non-Disease | rs72546667 | 0.0321 | - |