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 107 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q16828 | non-pleiotropic | VAR_051750 | p.Ser144Ala | Non-Disease | rs770087 | 0.1882 | - |
Q16828 | non-pleiotropic | VAR_069945 | p.Asn189Ser | Disease | rs143946794 | - | Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269] |
Q14204 | pleiotropic | VAR_070587 | p.Arg3384Gln | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_066651 | p.His306Arg | Disease | - | - | Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228] Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] |
Q14204 | pleiotropic | VAR_069440 | p.Arg4143Cys | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_070583 | p.Arg1962Cys | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_069444 | p.Ser4603Gly | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_069442 | p.Ala4421Thr | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_020890 | p.His4029Gln | Non-Disease | rs10129889 | 0.0923 | - |
Q14204 | pleiotropic | VAR_070585 | p.Lys3336Asn | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_069439 | p.Val2247Met | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_069443 | p.Ile4507Ser | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_070584 | p.Lys3241Thr | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_070582 | p.Arg1567Gln | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_069438 | p.Val1250Leu | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_070586 | p.Arg3344Gln | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_070580 | p.Lys129Ile | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_067820 | p.Ile584Leu | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] |
Q14204 | pleiotropic | VAR_069441 | p.Ala4285Ser | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_067821 | p.Lys671Glu | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] |
Q14204 | pleiotropic | VAR_069437 | p.Glu142Ala | Non-Disease | - | - | - |
Q14204 | pleiotropic | VAR_065085 | p.His3822Pro | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_067823 | p.Glu1518Lys | Disease | - | - | Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] |
Q14204 | pleiotropic | VAR_067822 | p.Tyr970Cys | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] |
Q14204 | pleiotropic | VAR_020889 | p.Asp3902Asn | Non-Disease | rs17512818 | - | - |
Q5JPH6 | non-pleiotropic | VAR_069238 | p.Arg107His | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069236 | p.Lys65Glu | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069247 | p.Arg516Gln | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069244 | p.Gly224Ser | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069245 | p.Gly317Cys | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069237 | p.Glu96Lys | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069239 | p.Arg108Trp | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069240 | p.Gly110Ser | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_028840 | p.Ser457Gly | Non-Disease | rs6497671 | 0.202 | - |
Q5JPH6 | non-pleiotropic | VAR_069243 | p.Gly204Ser | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069241 | p.Cys167Tyr | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069235 | p.Arg55His | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q5JPH6 | non-pleiotropic | VAR_069242 | p.Arg168Gly | Disease | - | - | Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924] |
Q15125 | non-pleiotropic | VAR_012106 | p.Arg110Gln | Disease | - | - | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] |
Q15125 | non-pleiotropic | VAR_012105 | p.Glu80Lys | Disease | rs28936073 | - | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] |
Q15125 | non-pleiotropic | VAR_012108 | p.Arg147His | Disease | rs28935174 | - | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] |
Q15125 | non-pleiotropic | VAR_012107 | p.Arg147Gly | Disease | - | - | Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960] |
O95672 | non-pleiotropic | VAR_012814 | p.His328Tyr | Non-Disease | rs1529874 | 0.0349 | - |
O95672 | non-pleiotropic | VAR_069993 | p.Arg404Cys | Disease | - | - | Arthrogryposis, distal, 5D (DA5D) [MIM:615065] |
O95672 | non-pleiotropic | VAR_069995 | p.Cys760Arg | Disease | - | - | Arthrogryposis, distal, 5D (DA5D) [MIM:615065] |
O95672 | non-pleiotropic | VAR_012813 | p.His10Gln | Non-Disease | rs2741281 | - | - |
O95672 | non-pleiotropic | VAR_069747 | p.Arg418Ser | Disease | - | - | Arthrogryposis, distal, 5D (DA5D) [MIM:615065] |
O95672 | non-pleiotropic | VAR_069994 | p.Gly607Ser | Disease | - | - | Arthrogryposis, distal, 5D (DA5D) [MIM:615065] |
Q16610 | non-pleiotropic | VAR_018690 | p.Thr130Met | Non-Disease | rs3737240 | 0.2443 | - |
Q16610 | non-pleiotropic | VAR_014762 | p.Gly528Arg | Non-Disease | rs1050901 | - | - |