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 272 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P08559 pleiotropic VAR_004957 p.Thr231Ala Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_021053 p.Tyr243Asn Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_050436 p.Glu333Asp Non-Disease rs2228067 0.0012 -
P08559 pleiotropic VAR_004955 p.Met210Val Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004951 p.Gly162Arg Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004953 p.Ala199Thr Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P08559 pleiotropic VAR_004949 p.Arg72Cys Disease - - Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
P11177 non-pleiotropic VAR_004967 p.Leu31Val Non-Disease - - -
P11177 non-pleiotropic VAR_030954 p.Tyr132Cys Disease rs28935769 - Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]
P11177 non-pleiotropic VAR_021058 p.Pro344Ser Disease rs28933391 - Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111]
Q15120 non-pleiotropic VAR_070081 p.Lys114Thr Non-Disease rs146331370 - -
Q15120 non-pleiotropic VAR_070082 p.Arg158His Disease - - Charcot-Marie-Tooth disease, X-linked dominant, 6 (CMTX6) [MIM:300905]
Q15120 non-pleiotropic VAR_070083 p.Tyr334Ser Non-Disease - - -
Q5T2R2 non-pleiotropic VAR_034879 p.Asp308Glu Disease - - Coenzyme Q10 deficiency, primary, 2 (COQ10D2) [MIM:614651]
Q86YH6 non-pleiotropic VAR_049645 p.Phe3Leu Non-Disease rs3734675 0.0326 -
Q86YH6 non-pleiotropic VAR_055398 p.Ser382Leu Disease - - Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]
P52945 non-pleiotropic VAR_009309 p.Cys18Arg Disease - - Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392]
P52945 non-pleiotropic VAR_009312 p.Arg197His Disease - - Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392]
P52945 non-pleiotropic VAR_009310 p.Gln59Leu Disease - - Maturity-onset diabetes of the young 4 (MODY4) [MIM:606392]
P01213 non-pleiotropic VAR_064913 p.Arg138Ser Disease - - Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213 non-pleiotropic VAR_064914 p.Leu211Ser Disease - - Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213 non-pleiotropic VAR_064916 p.Arg215Cys Disease - - Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P01213 non-pleiotropic VAR_064915 p.Arg212Trp Disease rs201486601 0.0002 Spinocerebellar ataxia 23 (SCA23) [MIM:610245]
P12955 non-pleiotropic VAR_014723 p.Leu435Phe Non-Disease rs17570 0.2952 -
P12955 non-pleiotropic VAR_011615 p.Gly278Asp Disease - - Prolidase deficiency (PD) [MIM:170100]
P12955 non-pleiotropic VAR_004404 p.Asp276Asn Disease - - Prolidase deficiency (PD) [MIM:170100]
P12955 non-pleiotropic VAR_051574 p.Arg388His Non-Disease rs2230062 0.0248 -
P12955 non-pleiotropic VAR_004405 p.Gly448Arg Disease - - Prolidase deficiency (PD) [MIM:170100]
P12955 non-pleiotropic VAR_011614 p.Arg184Gln Disease - - Prolidase deficiency (PD) [MIM:170100]
O15055 non-pleiotropic VAR_051575 p.Ala5Ser Non-Disease rs35572922 0.0028 -
O15055 non-pleiotropic VAR_051578 p.Phe949Tyr Non-Disease rs35998480 - -
O15055 non-pleiotropic VAR_051576 p.Val729Ile Non-Disease rs4429421 0.0078 -
O15055 non-pleiotropic VAR_029080 p.Ser662Gly Disease - - Advanced sleep phase syndrome, familial, 1 (FASPS1) [MIM:604348]
O15055 non-pleiotropic VAR_051577 p.Val903Ile Non-Disease rs35333999 0.0225 -
O15055 non-pleiotropic VAR_024558 p.Gly1244Glu Non-Disease rs934945 0.1882 -
O43933 pleiotropic VAR_048113 p.Ile640Arg Non-Disease rs4559173 - -
O43933 pleiotropic VAR_034376 p.Ile696Met Non-Disease rs35996821 0.0234 -
O43933 pleiotropic VAR_058379 p.Arg948Gln Non-Disease - - -
O43933 pleiotropic VAR_058376 p.Leu590Arg Disease - - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933 pleiotropic VAR_058377 p.Gly593Arg Disease - - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933 pleiotropic VAR_058378 p.Arg798Gly Disease - - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933 pleiotropic VAR_058380 p.Ala1237Glu Disease - - Peroxisome biogenesis disorder complementation group 1 (PBD-CG1) [MIM:214100]
O43933 pleiotropic VAR_008877 p.Gly843Asp Disease - - Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]
Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
O43933 pleiotropic VAR_008876 p.Leu664Pro Disease rs28939678 - Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100]
Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539]
O00623 pleiotropic VAR_050495 p.Leu245Ile Non-Disease rs12941376 0.0087 -
O00623 pleiotropic VAR_058389 p.Arg34Ser Disease rs147530802 0.0022 Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859]
O00623 pleiotropic VAR_031998 p.Ser320Phe Disease rs28936697 - Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510]
P28328 non-pleiotropic VAR_011389 p.Glu55Lys Disease - - Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]
P28328 non-pleiotropic VAR_060784 p.Cys184Arg Non-Disease rs10087163 0.0083 -
Q7Z412 pleiotropic VAR_018647 p.Leu45Pro Disease - - Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]