Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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]