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 18 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P21549 non-pleiotropic VAR_060548 p.Gly82Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_010971 p.Gly116Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060557 p.Met195Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060556 p.Gly190Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060553 p.Ser158Leu Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_010969 p.Gly41Val Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_000590 p.Gly170Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_000587 p.Pro11Leu Non-Disease rs34116584 0.1084 -
P21549 non-pleiotropic VAR_008881 p.Ile244Thr Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_010972 p.Gly156Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060567 p.Arg289Cys Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060569 p.Leu298Pro Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_000588 p.Gly41Arg Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_008878 p.Gly82Glu Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_048237 p.Ala295Thr Non-Disease rs13408961 0.0289 -
P21549 non-pleiotropic VAR_060571 p.Val336Asp Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_000592 p.Ser205Pro Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060561 p.Asp243His Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_000589 p.Phe152Ile Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P21549 non-pleiotropic VAR_060552 p.Leu153Val Disease - - Hyperoxaluria primary 1 (HP1) [MIM:259900]
P23526 non-pleiotropic VAR_058590 p.Ala89Val Disease - - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
P23526 non-pleiotropic VAR_058588 p.Arg49Cys Disease - - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
P23526 non-pleiotropic VAR_058591 p.Tyr143Cys Disease - - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
P23526 non-pleiotropic VAR_006934 p.Asp86Asn Non-Disease - - -
P23526 non-pleiotropic VAR_052286 p.Arg38Trp Non-Disease rs13043752 0.0069 -
P23526 non-pleiotropic VAR_058589 p.Asp86Gly Disease - - Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD) [MIM:613752]
Q8N157 non-pleiotropic VAR_068171 p.Glu1086Gly Disease rs148000791 0.0078 Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157 non-pleiotropic VAR_037897 p.Thr856Ser Non-Disease rs199736888 0.0005 -
Q8N157 non-pleiotropic VAR_037894 p.Arg723Gln Disease - - Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157 non-pleiotropic VAR_037899 p.Gln1018Pro Non-Disease rs6940875 0.0152 -
Q8N157 non-pleiotropic VAR_037892 p.Ile49Asn Non-Disease - - -
Q8N157 non-pleiotropic VAR_037896 p.Arg830Trp Non-Disease rs13312995 0.0142 -
Q8N157 non-pleiotropic VAR_037900 p.Ser1123Phe Non-Disease rs117447608 0.0023 -
Q8N157 non-pleiotropic VAR_037901 p.Pro1140Ser Non-Disease - - -
Q8N157 non-pleiotropic VAR_037895 p.Ser761Leu Non-Disease - - -
Q8N157 non-pleiotropic VAR_023391 p.Val443Asp Disease - - Joubert syndrome 3 (JBTS3) [MIM:608629]
Q8N157 non-pleiotropic VAR_037898 p.Tyr933Cys Non-Disease rs41288013 0.0023 -
Q8N157 non-pleiotropic VAR_037893 p.Arg548His Non-Disease rs35433555 0.0092 -
Q9GZX7 non-pleiotropic VAR_013775 p.Trp80Arg Disease - - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7 non-pleiotropic VAR_013774 p.Arg24Trp Disease - - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7 non-pleiotropic VAR_013778 p.Phe151Ser Disease - - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7 non-pleiotropic VAR_014091 p.Arg25Cys Non-Disease - - -
Q9GZX7 non-pleiotropic VAR_013777 p.Met139Val Disease - - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
Q9GZX7 non-pleiotropic VAR_013776 p.Leu106Pro Disease - - Immunodeficiency with hyper-IgM 2 (HIGM2) [MIM:605258]
O43918 non-pleiotropic VAR_013719 p.Tyr90Cys Disease rs179363883 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013721 p.Val301Met Disease rs150634562 0.0004 Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_013723 p.Cys311Tyr Disease - - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_026483 p.Phe77Ser Disease rs179363887 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_005005 p.Lys83Glu Disease - - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]
O43918 non-pleiotropic VAR_026485 p.Pro326Leu Disease rs179363888 - Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300]