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 159 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P07902 non-pleiotropic VAR_002570 p.His132Tyr Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002610 p.Leu289Arg Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_068531 p.Gln9His Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_068534 p.Arg33His Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002548 p.Asp28Tyr Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_068824 p.Tyr89His Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002627 p.Arg333Trp Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_008045 p.Arg204Pro Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_008048 p.Phe294Tyr Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002551 p.Val44Leu Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_068553 p.Leu327Pro Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_068536 p.Ser112Arg Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002567 p.Val125Ala Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_008047 p.Arg272Gly Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002600 p.Leu226Pro Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002595 p.Glu203Lys Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002605 p.Arg258Cys Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002609 p.Lys285Asn Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002556 p.Arg67Cys Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_068544 p.Arg201Cys Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002561 p.Asp113Asn Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002603 p.Tyr251Cys Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002626 p.Arg333Gln Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_002625 p.Arg333Gly Disease - - Galactosemia (GALCT) [MIM:230400]
P07902 non-pleiotropic VAR_068545 p.Glu220Lys Disease - - Galactosemia (GALCT) [MIM:230400]
Q14353 non-pleiotropic VAR_058106 p.Cys169Tyr Disease - - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353 non-pleiotropic VAR_058102 p.Trp20Ser Disease - - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353 non-pleiotropic VAR_025723 p.Thr209Met Non-Disease rs17851582 0.0381 -
Q14353 non-pleiotropic VAR_058103 p.Met50Leu Disease - - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353 non-pleiotropic VAR_058104 p.His51Pro Disease - - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q14353 non-pleiotropic VAR_058105 p.Ala54Pro Disease - - Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
Q9H2C0 non-pleiotropic VAR_015560 p.Ile423Thr Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_015680 p.Ile86Phe Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010757 p.Glu486Lys Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_054115 p.Val195Phe Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010767 p.Cys570Tyr Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010760 p.Ser52Gly Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010766 p.Arg545Cys Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010764 p.Arg269Gln Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_015681 p.Gly368Arg Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_054117 p.Gly474Arg Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_054118 p.Arg545His Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010763 p.Arg138His Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010761 p.Ser79Leu Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010759 p.Arg15Ser Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_054113 p.Ala51Pro Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010765 p.Leu309Arg Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_010762 p.Val82Phe Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_054114 p.Tyr89Cys Disease - - Giant axonal neuropathy (GAN) [MIM:256850]
Q9H2C0 non-pleiotropic VAR_054116 p.Pro315Leu Disease rs144486241 0.0002 Giant axonal neuropathy (GAN) [MIM:256850]