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
Disease name
Protein type
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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 186 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P22304 non-pleiotropic VAR_026947 p.Leu314Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026959 p.Pro480Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007345 p.Cys184Phe Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026953 p.Lys347Gln Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026940 p.Leu259Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007320 p.Pro86Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_008999 p.Ala82Glu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007386 p.Glu521Val Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007360 p.Ser333Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007378 p.Arg468Trp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026916 p.Ser71Asn Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026918 p.Ala82Val Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007324 p.Arg88Cys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007377 p.Arg468Gln Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007379 p.Pro469His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007370 p.Pro358Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007361 p.Trp337Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007382 p.Ile485Lys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007385 p.Trp502Ser Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007369 p.Ser349Ile Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026943 p.Asp308Glu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026926 p.Ser117Tyr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007341 p.Ser143Phe Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007365 p.Ala346Val Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007366 p.Lys347Ile Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007318 p.Ala79Glu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026935 p.Ala205Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026936 p.Lys227Met Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007340 p.Lys135Arg Disease rs28937311 - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007333 p.Thr118Ile Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007384 p.Trp502Cys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007349 p.Leu221Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007364 p.Ala346Asp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026920 p.Arg88Gly Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007354 p.His229Tyr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007342 p.His159Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007315 p.Tyr54Asp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007331 p.Tyr108Cys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007376 p.Arg468Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026954 p.Leu410Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007325 p.Arg88His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026934 p.Leu182Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026948 p.Asp334Asn Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007313 p.Asp45Asn Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026941 p.Asn265Ile Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007336 p.Glu125Val Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007375 p.Arg468Gly Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026921 p.Val89Phe Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007346 p.Cys184Trp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026952 p.Leu339Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]