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
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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 187 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P22304 non-pleiotropic VAR_007316 p.Asn63Asp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_008998 p.Ser71Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026932 p.Asp148His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007314 p.Arg48Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007348 p.Asp198Gly Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026924 p.Tyr108Ser Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007347 p.Leu196Ser Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007329 p.Gly94Asp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007359 p.Gln293His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007335 p.Pro120Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007317 p.Ala68Glu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026955 p.Cys422Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026945 p.Thr309Ala Disease rs145807417 - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026962 p.Glu521Lys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007330 p.Leu102Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007344 p.Pro160Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007362 p.Gly340Asp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026933 p.Asn181Ile Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007358 p.Asp269Val Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026939 p.Pro231Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007371 p.Leu403Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007323 p.Ser87Asn Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026957 p.Pro480Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026944 p.Asp308Asn Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026958 p.Pro480Gln Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007326 p.Arg88Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007367 p.Lys347Thr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007353 p.Pro228Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007338 p.Gly134Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007373 p.Cys432Tyr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007380 p.Asp478Gly Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007334 p.Pro120His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026917 p.Leu73Phe Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026951 p.Gly336Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007356 p.Pro266His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007363 p.Trp345Cys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026950 p.Gly336Glu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_009003 p.Gln465Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
Q9Y5U9 non-pleiotropic VAR_066569 p.Val21Gly Disease - - Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231]
Q9Y5U9 non-pleiotropic VAR_066570 p.Leu78Pro Disease - - Microcephaly, epilepsy, and diabetes syndrome (MEDS) [MIM:614231]
P38484 non-pleiotropic VAR_002718 p.Gln64Arg Non-Disease rs9808753 0.2576 -
P38484 non-pleiotropic VAR_021384 p.Lys182Glu Non-Disease rs17878711 0.0124 -
P38484 non-pleiotropic VAR_023281 p.Thr168Asn Disease - - Mendelian susceptibility to mycobacterial disease (MSMD) [MIM:209950]
P38484 non-pleiotropic VAR_021383 p.Glu147Lys Non-Disease rs17878639 0.001 -
P38484 non-pleiotropic VAR_020003 p.Thr58Arg Non-Disease rs4986958 0.0326 -
Q9HBG6 non-pleiotropic VAR_063586 p.Val502Gly Disease - - Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6 non-pleiotropic VAR_063584 p.Trp7Cys Disease - - Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q9HBG6 non-pleiotropic VAR_063585 p.Ser322Phe Disease - - Cranioectodermal dysplasia 1 (CED1) [MIM:218330]
Q96RY7 non-pleiotropic VAR_053396 p.Asp165Ala Non-Disease rs35588860 - -
Q96RY7 non-pleiotropic VAR_071008 p.Cys1360Arg Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]