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 9 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P16112 | pleiotropic | VAR_056154 | p.Pro1943Leu | Non-Disease | rs35061438 | 0.0276 | - |
P16112 | pleiotropic | VAR_063765 | p.Val2303Met | Disease | - | - | Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800] |
P16112 | pleiotropic | VAR_056152 | p.Asp102Glu | Non-Disease | rs16942318 | 0.0573 | - |
P16112 | pleiotropic | VAR_056153 | p.Arg275Gln | Non-Disease | rs34949187 | 0.0821 | - |
P16112 | pleiotropic | VAR_063053 | p.Asp2266Asn | Disease | - | - | Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813] |
P16112 | pleiotropic | VAR_056155 | p.Ser2005Arg | Non-Disease | rs34153007 | 0.026 | - |
P24752 | non-pleiotropic | VAR_007500 | p.Asn158Asp | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007496 | p.Ala5Pro | Non-Disease | rs3741056 | 0.3104 | - |
P24752 | non-pleiotropic | VAR_007506 | p.Gly379Val | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007502 | p.Thr297Met | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007503 | p.Ala301Pro | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007499 | p.Gly152Ala | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007498 | p.Asn93Ser | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007507 | p.Ala380Thr | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007504 | p.Ile312Thr | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007505 | p.Ala333Pro | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
P24752 | non-pleiotropic | VAR_007501 | p.Gly183Arg | Disease | - | - | 3-ketothiolase deficiency (3KTD) [MIM:203750] |
Q99798 | non-pleiotropic | VAR_033297 | p.Ala768Ser | Non-Disease | rs1804785 | - | - |
Q99798 | non-pleiotropic | VAR_067543 | p.Ser112Arg | Disease | - | - | Infantile cerebellar-retinal degeneration (ICRD) [MIM:614559] |
Q15067 | non-pleiotropic | VAR_021529 | p.Ile312Met | Non-Disease | rs1135640 | 0.427 | - |
Q15067 | non-pleiotropic | VAR_067044 | p.Ser310Pro | Disease | - | - | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] |
Q15067 | non-pleiotropic | VAR_030619 | p.Thr153Ile | Non-Disease | rs17855420 | 0.0005 | - |
Q15067 | non-pleiotropic | VAR_067042 | p.Gly231Val | Disease | - | - | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] |
Q15067 | non-pleiotropic | VAR_067043 | p.Gln309Arg | Disease | - | - | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] |
Q15067 | non-pleiotropic | VAR_048182 | p.Gly101Ser | Non-Disease | rs3744032 | 0.0707 | - |
Q15067 | non-pleiotropic | VAR_067041 | p.Ser184Leu | Disease | - | - | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] |
Q15067 | non-pleiotropic | VAR_025789 | p.Gly178Cys | Disease | - | - | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] |
Q15067 | non-pleiotropic | VAR_025790 | p.Met278Val | Disease | - | - | Adrenoleukodystrophy, pseudoneonatal (Pseudo-NALD) [MIM:264470] |
P13686 | non-pleiotropic | VAR_065926 | p.Asn262His | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
P13686 | non-pleiotropic | VAR_065923 | p.Leu201Pro | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
P13686 | non-pleiotropic | VAR_065920 | p.Lys52Met | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
P13686 | non-pleiotropic | VAR_029288 | p.Val221Ile | Non-Disease | rs2229532 | 0.0248 | - |
P13686 | non-pleiotropic | VAR_065927 | p.Met264Lys | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
P13686 | non-pleiotropic | VAR_020602 | p.Val148Met | Non-Disease | rs2305799 | 0.0923 | - |
P13686 | non-pleiotropic | VAR_065921 | p.Thr89Ile | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
P13686 | non-pleiotropic | VAR_065922 | p.Gly109Arg | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
P13686 | non-pleiotropic | VAR_065924 | p.Gly215Arg | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
P13686 | non-pleiotropic | VAR_020603 | p.Val200Met | Non-Disease | rs2229531 | 0.0781 | - |
P13686 | non-pleiotropic | VAR_065925 | p.Asp241Asn | Disease | - | - | Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) [MIM:607944] |
Q4G176 | non-pleiotropic | VAR_066511 | p.Arg471Trp | Disease | rs138680796 | - | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
Q4G176 | non-pleiotropic | VAR_066504 | p.Met198Arg | Disease | - | - | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
Q4G176 | non-pleiotropic | VAR_066506 | p.Thr358Ile | Disease | - | - | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
Q4G176 | non-pleiotropic | VAR_066510 | p.Arg471Gln | Disease | - | - | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
Q4G176 | non-pleiotropic | VAR_066507 | p.Glu359Lys | Disease | rs150487794 | 0.0008 | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
Q4G176 | non-pleiotropic | VAR_038308 | p.Val372Met | Non-Disease | rs3743979 | 0.3682 | - |
Q4G176 | non-pleiotropic | VAR_066513 | p.Arg558Trp | Disease | rs141090143 | 0.0008 | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
Q4G176 | non-pleiotropic | VAR_038306 | p.Leu2Pro | Non-Disease | rs7188200 | 0.354 | - |
Q4G176 | non-pleiotropic | VAR_038307 | p.Ala17Pro | Non-Disease | rs11547019 | 0.0689 | - |
Q4G176 | non-pleiotropic | VAR_066512 | p.Gly480Ser | Disease | - | - | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |
Q4G176 | non-pleiotropic | VAR_066508 | p.Lys462Thr | Disease | - | - | Combined malonic and methylmalonic aciduria (CMAMMA) [MIM:614265] |