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 260 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P08235 | pleiotropic | VAR_029311 | p.Phe826Tyr | Non-Disease | rs13306592 | - | - |
P08235 | pleiotropic | VAR_031277 | p.Ser818Leu | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_015626 | p.Ser810Leu | Disease | rs41511344 | - | Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115] |
P08235 | pleiotropic | VAR_014623 | p.Ile180Val | Non-Disease | rs5522 | 0.108 | - |
P08235 | pleiotropic | VAR_014626 | p.Asn554Ser | Non-Disease | rs5527 | 0.011 | - |
P08235 | pleiotropic | VAR_031273 | p.Asn770Lys | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_031269 | p.Cys645Ser | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_014625 | p.Arg537Gln | Non-Disease | rs5526 | - | - |
P08235 | pleiotropic | VAR_031274 | p.Gln776Arg | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_015627 | p.Leu924Pro | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_031279 | p.Leu979Pro | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_031278 | p.Glu972Gly | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_014624 | p.Asn444Thr | Non-Disease | rs5523 | 0.0037 | - |
P08235 | pleiotropic | VAR_031268 | p.Gly633Arg | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_031272 | p.Leu769Pro | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P08235 | pleiotropic | VAR_031270 | p.Arg659Ser | Disease | - | - | Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] |
P01111 | pleiotropic | VAR_063086 | p.Gly60Glu | Disease | - | - | Noonan syndrome 6 (NS6) [MIM:613224] |
P01111 | pleiotropic | VAR_063085 | p.Thr50Ile | Disease | - | - | Noonan syndrome 6 (NS6) [MIM:613224] |
P01111 | pleiotropic | VAR_063084 | p.Gly13Asp | Disease | - | - | Autoimmune lymphoproliferative syndrome 4 (ALPS4) [MIM:614470] |
Q6X4W1 | non-pleiotropic | VAR_059699 | p.Leu511Val | Non-Disease | rs34177733 | - | - |
Q6X4W1 | non-pleiotropic | VAR_069967 | p.Arg196His | Disease | - | - | Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838] |
Q6X4W1 | non-pleiotropic | VAR_023003 | p.Thr480Ala | Disease | - | - | Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838] |
Q08J23 | non-pleiotropic | VAR_068530 | p.Gly679Arg | Disease | - | - | Mental retardation, autosomal recessive 5 (MRT5) [MIM:611091] |
Q08J23 | non-pleiotropic | VAR_032604 | p.Val627Ile | Non-Disease | rs2303708 | 0.0234 | - |
Q9H0P0 | non-pleiotropic | VAR_023512 | p.Leu181Pro | Disease | - | - | P5N deficiency (P5ND) [MIM:266120] |
Q9H0P0 | non-pleiotropic | VAR_023511 | p.Asp137Val | Disease | - | - | P5N deficiency (P5ND) [MIM:266120] |
Q9H0P0 | non-pleiotropic | VAR_023513 | p.Asn229Ser | Disease | - | - | P5N deficiency (P5ND) [MIM:266120] |
Q9H0P0 | non-pleiotropic | VAR_023514 | p.Gly280Arg | Disease | - | - | P5N deficiency (P5ND) [MIM:266120] |
P21589 | non-pleiotropic | VAR_048103 | p.Met379Thr | Non-Disease | rs2229524 | 0.1558 | - |
P21589 | non-pleiotropic | VAR_065185 | p.Cys358Tyr | Disease | - | - | Calcification of joints and arteries (CALJA) [MIM:211800] |
P21589 | non-pleiotropic | VAR_022091 | p.Thr376Ala | Non-Disease | rs2229523 | 0.242 | - |
Q16620 | non-pleiotropic | VAR_016320 | p.Gly309Arg | Non-Disease | - | - | - |
Q16620 | non-pleiotropic | VAR_011973 | p.Asn338Tyr | Non-Disease | rs1047856 | - | - |
Q16620 | non-pleiotropic | VAR_049715 | p.Gly545Val | Non-Disease | rs1075108 | - | - |
Q16620 | non-pleiotropic | VAR_065890 | p.Tyr706Cys | Disease | - | - | Obesity hyperphagia and developmental delay (OHPDD) [MIM:613886] |
Q8TB37 | non-pleiotropic | VAR_069767 | p.Asp105Tyr | Disease | - | - | Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] |
Q8TB37 | non-pleiotropic | VAR_069768 | p.Leu193Phe | Disease | - | - | Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] |
Q8TB37 | non-pleiotropic | VAR_027895 | p.Asn198Thr | Non-Disease | rs17855507 | 0.0014 | - |
P37198 | non-pleiotropic | VAR_034904 | p.Gln391Pro | Disease | - | - | Infantile striatonigral degeneration (SNDI) [MIM:271930] |
P37198 | non-pleiotropic | VAR_028065 | p.Ser283Thr | Non-Disease | rs1062798 | 0.3163 | - |
P37198 | non-pleiotropic | VAR_028064 | p.Gly139Ser | Non-Disease | rs3745489 | 0.0528 | - |
P37198 | non-pleiotropic | VAR_013467 | p.Ala233Ser | Non-Disease | rs2290772 | 0.0014 | - |
Q9GZU5 | non-pleiotropic | VAR_013872 | p.Ala187Lys | Disease | - | - | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
Q9GZU5 | non-pleiotropic | VAR_013876 | p.Asn264Lys | Disease | - | - | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
Q9GZU5 | non-pleiotropic | VAR_013881 | p.Leu347Pro | Disease | - | - | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
Q9GZU5 | non-pleiotropic | VAR_013869 | p.Pro151Leu | Disease | - | - | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
Q9GZU5 | non-pleiotropic | VAR_052020 | p.Ala406Gly | Non-Disease | rs34169326 | 0.0054 | - |
Q9GZU5 | non-pleiotropic | VAR_013879 | p.Leu307Pro | Disease | - | - | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
Q9GZU5 | non-pleiotropic | VAR_013877 | p.Leu285Pro | Disease | - | - | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |
Q9GZU5 | non-pleiotropic | VAR_013870 | p.Pro175Arg | Disease | - | - | Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500] |