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 44 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P01185 | non-pleiotropic | VAR_004991 | p.Gly88Ser | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015271 | p.Gly96Val | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_019273 | p.Val67Ala | Disease | rs28934878 | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015266 | p.Gly54Val | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_029997 | p.Cys58Phe | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004986 | p.Pro55Leu | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004985 | p.Arg51Cys | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004980 | p.Ser17Phe | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015269 | p.Ser87Phe | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015265 | p.Gly54Arg | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015276 | p.Cys105Arg | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_019275 | p.Cys104Gly | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_019276 | p.Cys116Trp | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015278 | p.Cys116Arg | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015277 | p.Cys116Gly | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015267 | p.Cys59Arg | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004993 | p.Gly93Trp | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015270 | p.Cys92Tyr | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015264 | p.Cys52Arg | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004984 | p.Gly48Val | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004990 | p.Gly88Arg | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004982 | p.Ala19Val | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_011894 | p.Pro82Leu | Non-Disease | rs5195 | 0.0018 | - |
P01185 | non-pleiotropic | VAR_015279 | p.Cys105Tyr | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004994 | p.Gly96Cys | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015268 | p.Cys59Tyr | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015275 | p.Cys104Phe | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004983 | p.Gly45Arg | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015274 | p.Cys98Gly | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004989 | p.Leu81Pro | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015262 | p.Tyr21His | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015273 | p.Arg97Pro | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_029998 | p.Cys98Ser | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_011895 | p.Gly119Val | Non-Disease | rs1051744 | - | - |
P01185 | non-pleiotropic | VAR_004992 | p.Cys92Ser | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015263 | p.Pro26Leu | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004988 | p.Glu78Gly | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_019274 | p.Gly96Asp | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_004981 | p.Ala19Thr | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P01185 | non-pleiotropic | VAR_015272 | p.Arg97Cys | Disease | - | - | Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] |
P61769 | non-pleiotropic | VAR_030660 | p.Ala11Pro | Disease | - | - | Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600] |
Q8NCR0 | non-pleiotropic | VAR_069641 | p.Arg292Pro | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] |
Q8NCR0 | non-pleiotropic | VAR_069640 | p.Val268Met | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] |
Q8NCR0 | non-pleiotropic | VAR_069639 | p.Val252Gly | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] |
Q8NCR0 | non-pleiotropic | VAR_069638 | p.Gly247Glu | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181] |
O94766 | non-pleiotropic | VAR_066624 | p.Arg277Gln | Disease | - | - | Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600] |
O43505 | non-pleiotropic | VAR_069989 | p.Asn390Asp | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287] |
O43505 | non-pleiotropic | VAR_069990 | p.Ala406Val | Disease | - | - | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287] |
O43505 | non-pleiotropic | VAR_025019 | p.Thr253Ser | Non-Disease | rs35429253 | 0.0002 | - |
Q00973 | non-pleiotropic | VAR_012053 | p.Gly172Arg | Non-Disease | rs810205 | 0.0174 | - |