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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UniProtID
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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 90 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q96H96 pleiotropic VAR_070241 p.Ser57Thr Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_025701 p.Tyr247Cys Disease - - Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96 pleiotropic VAR_070246 p.Ser113Phe Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070238 p.Pro22Leu Non-Disease - - -
Q9Y2Z9 non-pleiotropic VAR_068216 p.Gly255Arg Disease - - Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]
Q9Y2Z9 non-pleiotropic VAR_068217 p.Glu287Lys Non-Disease rs17851169 - -
Q9Y2Z9 non-pleiotropic VAR_033813 p.Asp339Val Non-Disease rs2074930 0.1465 -
Q9Y2Z9 non-pleiotropic VAR_052691 p.Asp300Tyr Non-Disease rs1044640 - -
Q9Y2Z9 non-pleiotropic VAR_014953 p.Val406Met Non-Disease rs8500 0.3421 -
Q9Y2Z9 non-pleiotropic VAR_068218 p.Ala353Asp Disease - - Coenzyme Q10 deficiency, primary, 6 (COQ10D6) [MIM:614650]
Q9Y2Z9 non-pleiotropic VAR_033814 p.Thr395Met Non-Disease rs34746680 0.0046 -
Q9Y5Q5 non-pleiotropic VAR_067796 p.Asp444Gly Non-Disease rs13105608 - -
Q9Y5Q5 non-pleiotropic VAR_067795 p.Lys317Glu Disease - - Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]
Q9Y5Q5 non-pleiotropic VAR_067797 p.Ser472Gly Disease - - Pre-eclampsia/eclampsia 5 (PEE5) [MIM:614595]
Q9Y5Q5 non-pleiotropic VAR_038001 p.His525Arg Non-Disease rs11934749 0.0712 -
Q9Y5Q5 non-pleiotropic VAR_038000 p.Cys13Tyr Non-Disease rs2289433 0.2902 -
P31146 non-pleiotropic VAR_011957 p.Thr443Pro Non-Disease rs1053574 - -
P31146 non-pleiotropic VAR_011956 p.Arg415Lys Non-Disease rs1804109 - -
P31146 non-pleiotropic VAR_070447 p.Val134Met Disease - - Immunodeficiency 8 (IMD8) [MIM:615401]
Q12887 non-pleiotropic VAR_057373 p.Tyr97Cys Non-Disease rs16948986 0.0225 -
Q12887 non-pleiotropic VAR_064768 p.Leu258His Non-Disease - - -
Q12887 non-pleiotropic VAR_057371 p.Thr28Ile Non-Disease rs16948978 0.0225 -
Q12887 non-pleiotropic VAR_026565 p.Asp336Gly Disease - - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887 non-pleiotropic VAR_060234 p.Gly340Asp Non-Disease rs1050214 - -
Q12887 non-pleiotropic VAR_060233 p.Arg159Gln Non-Disease rs8077302 0.4867 -
Q12887 non-pleiotropic VAR_026562 p.Thr196Lys Disease - - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887 non-pleiotropic VAR_057372 p.Thr62Ser Non-Disease rs2230351 0.0716 -
Q12887 non-pleiotropic VAR_026563 p.Asn204Lys Disease - - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887 non-pleiotropic VAR_026566 p.Asp336Val Disease - - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q12887 non-pleiotropic VAR_026564 p.Pro225Leu Disease rs104894556 0.0002 Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
Q7KZN9 pleiotropic VAR_033117 p.Ser344Pro Disease - - Leigh syndrome (LS) [MIM:256000]
Q7KZN9 pleiotropic VAR_019596 p.Arg217Trp Disease rs28939711 - Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (CEMCOX2) [MIM:615119]
Leigh syndrome (LS) [MIM:256000]
Q96KJ9 non-pleiotropic VAR_033815 p.Arg161His Non-Disease rs11907253 0.0753 -
Q96KJ9 non-pleiotropic VAR_058101 p.Glu138Lys Disease rs119455950 0.0016 Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis (EPIDACH) [MIM:612714]
P14854 non-pleiotropic VAR_046775 p.Arg20His Disease - - Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]
P15169 non-pleiotropic VAR_042415 p.Gly178Asp Disease rs61751507 0.0266 Carboxypeptidase N deficiency (CPND) [MIM:212070]
P50416 non-pleiotropic VAR_020554 p.Asp454Gly Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020546 p.Arg123Cys Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_046767 p.Arg316Gly Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020557 p.Tyr498Cys Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020555 p.Pro479Leu Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_046768 p.Phe343Val Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020547 p.Ala275Thr Non-Disease rs2229738 0.0363 -
P50416 non-pleiotropic VAR_020559 p.Gly710Glu Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020556 p.Leu484Pro Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020548 p.Cys304Trp Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020549 p.Thr314Ile Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020558 p.Gly709Glu Disease rs28936374 - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020551 p.Glu360Gly Disease rs28936372 - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020553 p.Ala414Val Disease rs28936373 - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]