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 278 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9BXM7 non-pleiotropic VAR_046599 p.Glu417Gly Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046571 p.Gln115Leu Non-Disease rs148871409 0.0239 -
Q9BXM7 non-pleiotropic VAR_046602 p.Ile442Thr Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_062774 p.Ala280Thr Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046575 p.Ala168Pro Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_062777 p.Pro399Leu Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046568 p.Cys92Phe Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046586 p.Arg276Gln Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_018994 p.Gly309Asp Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_041017 p.Ser477Thr Non-Disease rs34416410 - -
Q9BXM7 non-pleiotropic VAR_041015 p.Met341Ile Non-Disease rs35813094 0.0002 -
Q9BXM7 non-pleiotropic VAR_046577 p.Pro196Leu Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046597 p.Gly395Val Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046604 p.Leu461Ser Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046567 p.Arg68Pro Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046596 p.Cys388Arg Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046582 p.Thr257Ile Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046605 p.Arg464His Disease - - Parkinson disease 6 (PARK6) [MIM:605909]
Q9BXM7 non-pleiotropic VAR_046572 p.Ala124Val Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046570 p.Ile111Ser Non-Disease - - -
Q9BXM7 non-pleiotropic VAR_046606 p.Glu476Lys Non-Disease rs115477764 0.0087 -
O60331 non-pleiotropic VAR_036996 p.Asp253Asn Disease - - Lethal congenital contracture syndrome 3 (LCCS3) [MIM:611369]
Q9BZ71 non-pleiotropic VAR_062132 p.Pro17Ser Non-Disease rs28493751 0.0583 -
Q9BZ71 non-pleiotropic VAR_046787 p.Gln626His Disease rs76024428 0.0014 Cone-rod dystrophy 5 (CORD5) [MIM:600977]
Q9BZ71 non-pleiotropic VAR_026014 p.Ala80Thr Non-Disease rs3809835 0.287 -
Q99697 pleiotropic VAR_035027 p.Arg108His Disease - - Ring dermoid of cornea (RDC) [MIM:180550]
Q99697 pleiotropic VAR_058735 p.Pro110Leu Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_003764 p.Thr114Pro Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_058740 p.Asn154Thr Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_003766 p.Arg137Pro Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_058737 p.Lys134Glu Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_058738 p.Arg136Cys Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_003765 p.Arg115His Disease - - Iridogoniodysgenesis 2 (IRID2) [MIM:137600]
Q99697 pleiotropic VAR_003763 p.Leu100Gln Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_035029 p.Val129Leu Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_003762 p.Arg130Trp Disease - - Iridogoniodysgenesis 2 (IRID2) [MIM:137600]
Q99697 pleiotropic VAR_058739 p.Leu151Val Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
Q99697 pleiotropic VAR_058736 p.Pro110Arg Disease - - Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500]
P98161 non-pleiotropic VAR_005539 p.Val3008Leu Disease - - Polycystic kidney disease 1 (PKD1) [MIM:173900]
P98161 non-pleiotropic VAR_010091 p.Thr3510Met Disease rs45478794 0.0383 Polycystic kidney disease 1 (PKD1) [MIM:173900]
P98161 non-pleiotropic VAR_058771 p.Arg739Gln Non-Disease rs40433 0.0927 -
P98161 non-pleiotropic VAR_058783 p.Ala1926Val Non-Disease - - -
P98161 non-pleiotropic VAR_005538 p.Ile2826Thr Disease - - Polycystic kidney disease 1 (PKD1) [MIM:173900]
P98161 non-pleiotropic VAR_058797 p.Pro2802Leu Disease - - Polycystic kidney disease 1 (PKD1) [MIM:173900]
P98161 non-pleiotropic VAR_011054 p.Val2782Met Non-Disease - - -
P98161 non-pleiotropic VAR_058778 p.Thr1649Met Non-Disease - - -
P98161 non-pleiotropic VAR_064384 p.Leu727Arg Disease - - Polycystic kidney disease 1 (PKD1) [MIM:173900]
P98161 non-pleiotropic VAR_011070 p.Leu3852Pro Disease - - Polycystic kidney disease 1 (PKD1) [MIM:173900]
P98161 non-pleiotropic VAR_058767 p.Pro572Ser Non-Disease rs149022148 0.039 -
P98161 non-pleiotropic VAR_010093 p.Ser3562Asn Non-Disease - - -