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 210 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9H9P8 | non-pleiotropic | VAR_025684 | p.Lys81Glu | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |
Q9H9P8 | non-pleiotropic | VAR_025683 | p.Gly57Arg | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |
Q9H9P8 | non-pleiotropic | VAR_025681 | p.Leu18Arg | Non-Disease | rs2275591 | 0.433 | - |
Q9H9P8 | non-pleiotropic | VAR_025687 | p.Glu176Asp | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |
Q9H9P8 | non-pleiotropic | VAR_025685 | p.His98Arg | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |
Q9H9P8 | non-pleiotropic | VAR_025689 | p.Pro302Leu | Disease | - | - | L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792] |
Q16363 | non-pleiotropic | VAR_056140 | p.Gly94Ser | Non-Disease | rs35349917 | 0.0262 | - |
Q16363 | non-pleiotropic | VAR_056143 | p.Asn1549Ser | Non-Disease | rs12110554 | 0.0165 | - |
Q16363 | non-pleiotropic | VAR_056144 | p.Val1815Ile | Non-Disease | rs3734292 | 0.0202 | - |
Q16363 | non-pleiotropic | VAR_069708 | p.Pro950Leu | Disease | - | - | Cardiomyopathy, dilated 1JJ (CMD1JJ) [MIM:615235] |
Q16363 | non-pleiotropic | VAR_056142 | p.Leu492His | Non-Disease | rs3752579 | 0.0046 | - |
Q16363 | non-pleiotropic | VAR_025552 | p.Pro1119Arg | Non-Disease | rs1050349 | 0.2328 | - |
Q16363 | non-pleiotropic | VAR_025551 | p.Gly1117Ser | Non-Disease | rs2032567 | 0.2043 | - |
Q16363 | non-pleiotropic | VAR_061348 | p.Ala283Glu | Non-Disease | rs9400522 | 0.1758 | - |
Q16363 | non-pleiotropic | VAR_025550 | p.Tyr498His | Non-Disease | rs1050348 | 0.2741 | - |
Q16363 | non-pleiotropic | VAR_056141 | p.Arg154Trp | Non-Disease | rs11757455 | 0.0289 | - |
Q9Y6N6 | non-pleiotropic | VAR_056145 | p.Pro522Ser | Non-Disease | rs869457 | 0.2502 | - |
Q9Y6N6 | non-pleiotropic | VAR_056149 | p.Arg1264Trp | Non-Disease | rs11244275 | 0.0289 | - |
Q9Y6N6 | non-pleiotropic | VAR_056147 | p.Arg770Gly | Non-Disease | rs3739510 | 0.2332 | - |
Q9Y6N6 | non-pleiotropic | VAR_056146 | p.Glu544Gly | Non-Disease | rs10901333 | 0.4712 | - |
Q9Y6N6 | non-pleiotropic | VAR_066404 | p.Gly350Arg | Disease | - | - | Cortical malformations occipital (OCCM) [MIM:614115] |
Q9Y6N6 | non-pleiotropic | VAR_056148 | p.Ser1082Gly | Non-Disease | rs2275140 | 0.2957 | - |
P13473 | non-pleiotropic | VAR_011992 | p.Pro256His | Non-Disease | rs1043878 | - | - |
P13473 | non-pleiotropic | VAR_026230 | p.Trp321Arg | Disease | - | - | Danon disease (DAND) [MIM:300257] |
Q9P2J5 | non-pleiotropic | VAR_070437 | p.Lys82Arg | Non-Disease | rs112954500 | 0.0023 | - |
Q9P2J5 | non-pleiotropic | VAR_052637 | p.Arg1088Lys | Non-Disease | rs10988 | 0.2002 | - |
Q9P2J5 | non-pleiotropic | VAR_070438 | p.Tyr373Cys | Disease | - | - | Infantile liver failure syndrome 1 (ILFS1) [MIM:615438] |
Q15031 | non-pleiotropic | VAR_070094 | p.Thr522Asn | Disease | - | - | Perrault syndrome 4 (PRLTS4) [MIM:615300] |
Q15031 | non-pleiotropic | VAR_052639 | p.Glu831Asp | Non-Disease | rs9827689 | 0.0179 | - |
Q15031 | non-pleiotropic | VAR_070095 | p.Thr629Met | Disease | - | - | Perrault syndrome 4 (PRLTS4) [MIM:615300] |
Q15031 | non-pleiotropic | VAR_052638 | p.Lys727Asn | Non-Disease | rs36054230 | 0.0083 | - |
P09848 | non-pleiotropic | VAR_055883 | p.Val1593Met | Non-Disease | rs35891837 | 0.011 | - |
P09848 | non-pleiotropic | VAR_026705 | p.Val219Ile | Non-Disease | rs3754689 | 0.3393 | - |
P09848 | non-pleiotropic | VAR_055882 | p.Ser190Leu | Non-Disease | rs35156533 | 0.0018 | - |
P09848 | non-pleiotropic | VAR_026709 | p.Asn1639Ser | Non-Disease | rs2322659 | 0.4885 | - |
P09848 | non-pleiotropic | VAR_026707 | p.Ile362Val | Non-Disease | rs4954449 | 0.0188 | - |
P09848 | non-pleiotropic | VAR_026708 | p.Gly1363Ser | Disease | - | - | Congenital lactase deficiency (COLACD) [MIM:223000] |
P09848 | non-pleiotropic | VAR_026706 | p.Gln268His | Disease | - | - | Congenital lactase deficiency (COLACD) [MIM:223000] |
Q5SW96 | non-pleiotropic | VAR_028403 | p.Ser202Pro | Non-Disease | rs6687605 | 0.4587 | - |
Q5SW96 | non-pleiotropic | VAR_023320 | p.Ser202His | Disease | - | - | Hypercholesterolemia, autosomal recessive (ARH) [MIM:603813] |
O00292 | non-pleiotropic | VAR_010385 | p.Ser342Asn | Disease | - | - | Left-right axis malformations (LRAM) [MIM:601877] |
O00292 | non-pleiotropic | VAR_021980 | p.Ser92Leu | Non-Disease | rs366439 | 0.0002 | - |
O00292 | non-pleiotropic | VAR_021981 | p.Pro286Leu | Non-Disease | rs2295418 | 0.0511 | - |
P41159 | non-pleiotropic | VAR_008094 | p.Arg105Trp | Disease | rs104894023 | - | Leptin deficiency (LEPD) [MIM:614962] |
P41159 | non-pleiotropic | VAR_004197 | p.Val94Met | Non-Disease | rs17151919 | 0.0202 | - |
P41159 | non-pleiotropic | VAR_011955 | p.Val110Met | Non-Disease | rs1800564 | - | - |
Q8IVL5 | non-pleiotropic | VAR_066637 | p.Gly508Val | Disease | - | - | Myopia, high, with cataract and vitreoretinal degeneration (MCVD) [MIM:614292] |
Q8NES3 | non-pleiotropic | VAR_046786 | p.Val346Met | Non-Disease | rs71647813 | 0.0037 | - |
Q8NES3 | non-pleiotropic | VAR_025850 | p.Phe188Leu | Disease | - | - | Spondylocostal dysostosis 3, autosomal recessive (SCDO3) [MIM:609813] |
Q8NES3 | non-pleiotropic | VAR_046785 | p.Gly38Arg | Non-Disease | - | - | - |