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.

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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 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]