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 48 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P06276 non-pleiotropic VAR_040020 p.Leu153Phe Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040027 p.Thr271Met Disease rs28933389 0.0004 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040025 p.Ala227Val Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040035 p.Gly418Val Disease rs28933390 0.002 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040017 p.Asn124Tyr Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040030 p.Lys295Arg Disease rs115624085 0.0002 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040036 p.Phe446Ser Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040026 p.Ala229Thr Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040042 p.Gln546Leu Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040015 p.Pro65Ser Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040016 p.Asp98His Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040031 p.Leu335Pro Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040022 p.Val170Met Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_002364 p.Ala567Thr Disease rs1803274 0.1585 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_002360 p.Asp98Gly Disease rs1799807 0.006 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040019 p.Gly143Asp Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040012 p.Thr52Met Disease rs56309853 0.0004 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040029 p.Glu283Asp Non-Disease rs16849700 0.0156 -
P06276 non-pleiotropic VAR_040039 p.Phe502Leu Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040023 p.Asp198Glu Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040041 p.Arg543Cys Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040037 p.Glu488Lys Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040028 p.Thr278Pro Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_002362 p.Leu358Ile Disease rs121918557 0.0002 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040014 p.Tyr61Cys Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040013 p.Phe56Ile Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040018 p.Pro128Ser Disease rs3732880 - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040032 p.Ala356Asp Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040040 p.Glu525Val Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040034 p.Arg414Cys Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P12694 non-pleiotropic VAR_015102 p.Phe409Cys Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_069750 p.Arg346Cys Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_004972 p.Tyr413Cys Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_004971 p.Ile326Thr Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_015101 p.Gly290Arg Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_004969 p.Gln190Lys Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_069748 p.Thr211Met Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_034360 p.Pro39His Non-Disease rs34589432 0.0597 -
P12694 non-pleiotropic VAR_004973 p.Tyr438Asn Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_069749 p.Ala220Val Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_004968 p.Arg159Trp Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P12694 non-pleiotropic VAR_034361 p.Thr151Met Non-Disease rs34442879 0.0055 -
P12694 non-pleiotropic VAR_004970 p.Ala253Thr Disease - - Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
P21953 non-pleiotropic VAR_050437 p.Thr41Ile Non-Disease rs35470366 0.0069 -
P21953 non-pleiotropic VAR_068348 p.Arg170His Disease - - Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953 non-pleiotropic VAR_004974 p.His206Arg Disease - - Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953 non-pleiotropic VAR_024852 p.Gly278Ser Disease - - Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953 non-pleiotropic VAR_024851 p.Arg183Pro Disease rs28934895 - Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
P21953 non-pleiotropic VAR_068349 p.Gln346Arg Disease - - Maple syrup urine disease 1B (MSUD1B) [MIM:248600]
O14874 non-pleiotropic VAR_069037 p.Arg224Pro Disease - - Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) [MIM:614923]