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 50 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9BX63 | pleiotropic | VAR_023700 | p.Gln255His | Disease | - | - | Fanconi anemia complementation group J (FANCJ) [MIM:609054] |
Q9BX63 | pleiotropic | VAR_020900 | p.Met299Ile | Disease | - | - | Breast cancer (BC) [MIM:114480] |
Q9BX63 | pleiotropic | VAR_020906 | p.Val935Gly | Non-Disease | rs4988356 | - | - |
Q9BX63 | pleiotropic | VAR_023704 | p.Arg707Cys | Disease | - | - | Fanconi anemia complementation group J (FANCJ) [MIM:609054] |
Q9BX63 | pleiotropic | VAR_020898 | p.Val193Ile | Non-Disease | rs4988346 | 0.0014 | - |
Q9BX63 | pleiotropic | VAR_020902 | p.Phe531Val | Non-Disease | rs4988350 | - | - |
Q9BX63 | pleiotropic | VAR_020901 | p.Arg419Trp | Non-Disease | - | - | - |
Q9BX63 | pleiotropic | VAR_023703 | p.Trp647Cys | Disease | - | - | Fanconi anemia complementation group J (FANCJ) [MIM:609054] |
Q9BX63 | pleiotropic | VAR_052192 | p.Ile633Met | Non-Disease | rs28997572 | - | - |
Q9BX63 | pleiotropic | VAR_020903 | p.Gln540Leu | Non-Disease | rs4988349 | - | - |
Q9BX63 | pleiotropic | VAR_023702 | p.Ala349Pro | Disease | - | - | Fanconi anemia complementation group J (FANCJ) [MIM:609054] |
Q9BX63 | pleiotropic | VAR_020905 | p.Pro919Ser | Non-Disease | rs4986764 | 0.3722 | - |
Q6RI45 | non-pleiotropic | VAR_036940 | p.Lys1596Glu | Disease | - | - | Mental retardation, X-linked 93 (MRX93) [MIM:300659] |
Q6RI45 | non-pleiotropic | VAR_031491 | p.Lys1288Arg | Non-Disease | rs3122407 | 0.0103 | - |
Q96G97 | pleiotropic | VAR_022375 | p.Asn88Ser | Disease | - | - | Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794] Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685] |
Q96G97 | pleiotropic | VAR_022377 | p.Ala212Pro | Disease | - | - | Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700] |
Q96G97 | pleiotropic | VAR_022376 | p.Ser90Leu | Disease | - | - | Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794] Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685] |
P43251 | non-pleiotropic | VAR_005118 | p.Gly451Asp | Disease | - | - | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005113 | p.Phe128Val | Disease | - | - | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005115 | p.Asp228Tyr | Disease | - | - | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005117 | p.Asp444His | Disease | rs13078881 | 0.0186 | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005119 | p.Gln456His | Disease | rs80338685 | 0.0002 | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005114 | p.Ala171Thr | Disease | rs13073139 | - | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005120 | p.Thr532Met | Disease | rs104893688 | 0.0002 | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005121 | p.Arg538Cys | Disease | - | - | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_005116 | p.His323Arg | Disease | - | - | Biotinidase deficiency (BTD deficiency) [MIM:253260] |
P43251 | non-pleiotropic | VAR_056238 | p.Pro391Ser | Non-Disease | rs35034250 | 0.0087 | - |
Q99622 | non-pleiotropic | VAR_069774 | p.Leu51Gln | Disease | - | - | Temtamy syndrome (TEMTYS) [MIM:218340] |
Q9Y2V0 | non-pleiotropic | VAR_070876 | p.Tyr94Cys | Disease | - | - | Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] |
Q9Y2V0 | non-pleiotropic | VAR_070877 | p.Leu178Gln | Disease | - | - | Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631] |
Q9Y2V0 | non-pleiotropic | VAR_059622 | p.Leu73Val | Non-Disease | rs3784678 | 0.494 | - |
Q9NSK7 | pleiotropic | VAR_066622 | p.Lys142Thr | Non-Disease | rs79915936 | 0.0317 | - |
Q9NSK7 | pleiotropic | VAR_066618 | p.Gly53Arg | Disease | rs200133991 | 0.0002 | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069760 | p.Pro83Leu | Disease | rs201987973 | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069757 | p.Ala48Pro | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069756 | p.Ser39Phe | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_066620 | p.Gly69Arg | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069762 | p.Leu121Gln | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_066617 | p.Thr11Met | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_066619 | p.Gly65Glu | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069761 | p.Arg98Ser | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069759 | p.Gly65Val | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069758 | p.Pro60Leu | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] |
Q9NSK7 | pleiotropic | VAR_069764 | p.Gln149Arg | Non-Disease | rs73023451 | 0.0005 | - |
Q9NSK7 | pleiotropic | VAR_070668 | p.Ala63Pro | Disease | - | - | Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298] Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043] |
Q96EU7 | non-pleiotropic | VAR_031910 | p.Asp131Glu | Non-Disease | rs17261572 | 0.1312 | - |
Q96EU7 | non-pleiotropic | VAR_069275 | p.Ser193Pro | Disease | - | - | Tn polyagglutination syndrome (TNPS) [MIM:300622] |
Q96EU7 | non-pleiotropic | VAR_069276 | p.Gln222His | Non-Disease | rs200973382 | 0.0003 | - |
Q96EU7 | non-pleiotropic | VAR_069274 | p.Ala143Val | Non-Disease | rs45557031 | 0.0121 | - |
Q96EU7 | non-pleiotropic | VAR_031911 | p.Glu152Lys | Disease | rs137853599 | - | Tn polyagglutination syndrome (TNPS) [MIM:300622] |