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 181 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P50747 | non-pleiotropic | VAR_046510 | p.Tyr456Cys | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046511 | p.Leu470Ser | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046507 | p.Arg183Pro | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_021219 | p.Asn511Lys | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_009197 | p.Thr462Ile | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_009199 | p.Asp571Asn | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_005084 | p.Leu237Pro | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046509 | p.Val363Asp | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_009196 | p.Val333Glu | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_009198 | p.Val550Met | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046512 | p.Gly518Glu | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_009200 | p.Gly581Ser | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046514 | p.Asp615Tyr | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046508 | p.Arg360Ser | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
Q96RW7 | non-pleiotropic | VAR_024811 | p.Ala1624Val | Non-Disease | - | - | - |
Q96RW7 | non-pleiotropic | VAR_049877 | p.Gln4437Arg | Non-Disease | rs10911825 | 0.4844 | - |
Q96RW7 | non-pleiotropic | VAR_024813 | p.Ile2418Thr | Non-Disease | rs12129650 | 0.4518 | - |
Q96RW7 | non-pleiotropic | VAR_049875 | p.Thr1056Ala | Non-Disease | rs7539719 | 0.1543 | - |
Q96RW7 | non-pleiotropic | VAR_024814 | p.Glu2893Gly | Non-Disease | rs10798035 | 0.4114 | - |
Q96RW7 | non-pleiotropic | VAR_024816 | p.Ala4720Thr | Non-Disease | rs6693069 | 0.0606 | - |
Q96RW7 | non-pleiotropic | VAR_024815 | p.His4084Tyr | Non-Disease | rs41317489 | 0.0083 | - |
Q96RW7 | non-pleiotropic | VAR_024817 | p.Asp5087Val | Non-Disease | rs41317507 | 0.0803 | - |
Q96RW7 | non-pleiotropic | VAR_024812 | p.Met2327Ile | Non-Disease | rs12067376 | 0.0147 | - |
Q96RW7 | non-pleiotropic | VAR_049876 | p.Val1184Phe | Non-Disease | rs12239296 | 0.0119 | - |
Q96RW7 | non-pleiotropic | VAR_024818 | p.Gln5345Arg | Disease | - | - | Macular degeneration, age-related, 1 (ARMD1) [MIM:603075] |
P35914 | non-pleiotropic | VAR_058440 | p.Glu37Lys | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058448 | p.Gly203Glu | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058449 | p.Asp204Asn | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058443 | p.Ser142Phe | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_003748 | p.Val70Leu | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058446 | p.Ile200Phe | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_014202 | p.Glu279Lys | Disease | rs28934894 | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058442 | p.Ser75Arg | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058450 | p.Leu263Pro | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_003746 | p.Asp42Gly | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_003745 | p.Asp42Glu | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_065453 | p.Arg165Gln | Disease | rs199587895 | 0.0002 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058444 | p.Cys174Tyr | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_003747 | p.Asp42His | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058445 | p.Phe192Ser | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058441 | p.Lys48Asn | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_058447 | p.Ser201Tyr | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_003749 | p.His233Arg | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P35914 | non-pleiotropic | VAR_003744 | p.Arg41Gln | Disease | - | - | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450] |
P54868 | non-pleiotropic | VAR_032760 | p.Arg500His | Disease | - | - | HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] |
P54868 | non-pleiotropic | VAR_032757 | p.Val54Met | Disease | rs28937320 | - | HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] |
P54868 | non-pleiotropic | VAR_032758 | p.Tyr167Cys | Disease | - | - | HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] |
P54868 | non-pleiotropic | VAR_032759 | p.Gly212Arg | Disease | - | - | HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] |
P54868 | non-pleiotropic | VAR_032711 | p.Phe174Leu | Disease | - | - | HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911] |
P22626 | non-pleiotropic | VAR_070591 | p.Asp302Val | Disease | - | - | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422] |