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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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 185 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9UPZ9 non-pleiotropic VAR_053931 p.Pro98Leu Non-Disease rs1493105 - -
Q9UPZ9 non-pleiotropic VAR_042003 p.Thr471Lys Non-Disease rs56164633 - -
Q9UPZ9 non-pleiotropic VAR_042005 p.Ala615Thr Non-Disease rs55932059 - -
Q9UPZ9 non-pleiotropic VAR_057994 p.Arg272Gln Disease - - Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]
Q9UPZ9 non-pleiotropic VAR_042004 p.Arg476Gln Non-Disease rs55895113 - -
Q9UPZ9 non-pleiotropic VAR_042002 p.Val320Ile Non-Disease rs33936662 0.0459 -
P48735 non-pleiotropic VAR_065174 p.Arg140Gly Disease - - D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
P48735 non-pleiotropic VAR_065175 p.Arg140Gln Disease - - D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657]
O43837 non-pleiotropic VAR_054851 p.Leu132Pro Disease - - Retinitis pigmentosa 46 (RP46) [MIM:612572]
O43837 non-pleiotropic VAR_022660 p.Ala3Val Non-Disease rs3178817 - -
O43837 non-pleiotropic VAR_049781 p.Gln166His Non-Disease rs11542741 - -
O43837 non-pleiotropic VAR_056005 p.Thr360Ala Non-Disease rs8296 0.0597 -
P22304 non-pleiotropic VAR_026930 p.His138Asp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007339 p.Lys135Asn Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007332 p.Asn115Tyr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_008136 p.Ser491Phe Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007372 p.Cys422Gly Disease rs28937310 - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026929 p.Gln121Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007357 p.Pro266Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007368 p.Tyr348His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007355 p.Asp252Asn Disease rs146458524 - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026937 p.Pro228Thr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_008134 p.Glu341Lys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026928 p.Gln121His Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007322 p.Pro86Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007328 p.Leu92Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007321 p.Pro86Gln Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007352 p.Lys227Gln Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026961 p.Tyr490Ser Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_009002 p.Asp334Gly Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007387 p.Tyr523Cys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026956 p.Pro467Leu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_008135 p.His342Tyr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026931 p.Gly140Val Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007350 p.Gly224Glu Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026949 p.His335Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026938 p.His229Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_009001 p.Tyr264Asn Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026942 p.Ser299Ile Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026922 p.Arg95Gly Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007374 p.Glu434Lys Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007381 p.Asp478Tyr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007337 p.Ser132Trp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007327 p.Arg88Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007319 p.Ala85Thr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026915 p.Leu41Pro Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007383 p.Ile485Arg Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026923 p.Arg95Thr Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_007351 p.Tyr225Asp Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]
P22304 non-pleiotropic VAR_026919 p.Ala85Ser Disease - - Mucopolysaccharidosis 2 (MPS2) [MIM:309900]